Genetic Testing

Courtagen offers easy-to-use genetic testing for patients with symptoms of neurological and metabolic disorders. Using the latest Next Generation Sequencing technology, we turn test results into insights that could lead to answers for physicians and families in search of diagnosis and treatment options. A single saliva sample can provide comprehensive results in weeks versus months, eliminating the need for other costly, invasive procedures.

GENETIC TEST MENU

    Abdominal Pain Spotlight Panel (42 genes)

This panel tests for genetic etiologies of abdominal pain. While abdominal pain usually has a non-genetic etiology, it may also be caused by a primary genetic disease. Genes on this panel are associated with fructose intolerance, lipid abnormalities, liver disease, hematologic disorders and other disorders in which abdominal pain is a common symptom.
Genes:
ABCB4, ABCC2, ABCG5, ABCG8, ACTG2, ALAD, ALDOB, APOA5, APOC2, CBS, CPOX, F12, FTH1, G6PD, GLA, GPIHBP1, GUCY2C, HAMP, HBB, HFE, HFE2, HMBS, LCT, LPL, MEFV, MLYCD, MVK, NLRP12, NLRP3, OTC, POLG, PPOX, RYR2, SERPING1, SLC16A1, SLC40A1, SPINK1, TFR2, TNFRSF1A, TRAP1, TYMP,

    Absence Seizures Spotlight Panel (11 genes)

This panel tests for genetic causes of absence seizures.
Genes:
CACNA1H, CHD2, CLCN2, EFHC1, GABRA1, GABRA1, GABRB3, GABRG2, KCNMA1, SLC2A1, SYNGAP1

    Aicardi-Goutieres Syndrome Spotlight Panel (5 genes)

This panel tests for Aicardi-Goutières syndrome (AGS), an early-onset encephalopathy condition typically including severe intellectual disability, abnormal neurologic findings, chilblain skin lesions, and other health issues. The condition may present in the neonatal period resembling congenital infection or during infancy with irritability, intermittent fever, loss of milestones, and slowing head growth.
Genes:
TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1

    Bardet-Biedl Syndrome Spotlight Panel (16 genes)

This panel tests for Bardet-Biedl syndrome, a group of ciliopathy disorders characterized by retinal dsystrophy, obesity, renal dysfunction, polydactyly, genital abnormalities and learning difficulties.
Genes:
ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, LZTFL1, MKKS, MKS1, SDCCAG8, TTC8, WDPCP

    Benign Epilepsies Spotlight Panel (15 genes)

This panel tests for genetic causes of benign epilepsy, which includes benign familial infantile seizures, Rolandic epilepsy and some forms of juvenile myoclonic epilepsy.
Genes:
CACNA1H, CACNB4, CASR, CLCN2, CNTN2, EFHC1, EFHC2, ELP4, GABRA1, GABRD, KCNQ2, KCNQ3, PRRT2, RBFOX1, SRPX2

    Brain Malformation Seizures Spotlight Panel (29 genes)

This panel tests for genetic causes of brain malformations, which can be associated with seizures. The genetic specific conditions tested for in this panel include cerebral dysgenesis, cortical dysplasia/periventricular heterotopia, lissencephaly, agenesis of the corpus callosum, polymicrogyria, holoprosencephaly, hydrocephalus, schizencephaly, tuberous sclerosis, and others.
Genes:
ARFGEF2, ARX, DCLK2, DCX, EMX2, EOMES, FKRP, FKTN, FLNA, GPR56, KIAA1279, NDE1, PAFAH1B1, PHGDH, PIK3CA, PIK3R2, POMGNT1, POMT1, POMT2, RELN, RTTN, SHH, SIX3, SNAP29, TSC1, TSC2, TUBA1A, TUBA8, WDR62

    Centronuclear Myopathy Spotlight Panel (6 genes)

This panel tests for genes associated with centronuclear myopathies, a group of disorders that cause progressive skeletal muscle weakness and atrophy. Genes on this panel are associated with centronuclear myopathies, which may also be called myotubular myopathies due to the histological appearance of muscle cells in affected individuals.
Genes:
BIN1, CCDC78, DNM2, MTM1, RYR1, TTN

    Classic Mitochondrial Disease Spotlight Panel (24 genes)

This panel tests for well-defined mitochondrial syndromes associated with nuclear DNA changes. Leigh syndrome, primary CoQ10 deficiency, cytochrome c oxidase deficiencies, succinate-CoA ligase deficiency and progressive external ophthalmoplegia.
Genes:
BCS1L, C10ORF2, COQ2, COX10, COX15, COX6B1, DGUOK, DLD, MPV17, OPA1, PDHA1, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, SUCLA2, SUCLG1, SURF1, TACO1, TIMM8A, TK2, TYMP

    Congenital Disorders of Glycosylation Spotlight Panel (39 genes)

This panel tests for congenital disorders of glycosylation (CDGs), of which there are many types. CDGs are inborn errors of metabolism that occur because of abnormal glycosylation of proteins and lipids. There is an extremely broad range of expressivity and consideration of a CDG is recommended for patients with an unexplained multisystem disorder (Grunewald, Matthijs and Jaeken (2002) Pediatric Research. 52:618-624.
Genes:
ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DOLK, DPAGT1, DPM1, DPM2, DPM3, GMPPA, MAN1B1, MGAT2, MOGS, MPDU1, MPI, PGM1, PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165

    Congenital Muscular Dystrophy Spotlight Panel (25 genes)

This panel tests for genes associated with congenital muscular dystrophy. Genes on this panel are associated with merosin-deficient muscular dystrophy, Walker-Warburg syndrome, dystroglycanopathies, and other congenital muscular dystrophies.
Genes:
B3GALNT2, B4GAT1, CHKB, COL6A1, COL6A2, COL6A3, DAG1, DPM1, DPM2, FHL1, FKRP, FKTN, GMPPB, ISPD, ITGA7, LAMA2, LARGE1, LMNA, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SELENON, TRAPPC11

    Congenital Myasthenia Spotlight Panel (21 genes)

This panel tests for genes associated with congenital myasthenic syndrome, which are caused by defects in the structure or function of the neuromuscular junction. Genes on this panel code for autosomal recessive and autosomal dominant types of congenital myasthenia and include subunits of the muscle nicotinic acetylcholine receptor as well as less common molecular etiologies of congenital myasthenic syndrome.
Genes:
ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, GRN, LAMB2, LRP4, MUSK, PLEC, RAPSN, SCN4A, SLC5A7, SYT2

    Congenital Myopathy Spotlight Panel (27 genes)

This panel tests for genes associated with congenital myopathies, a group of disorders that cause muscle weakness at birth or in infancy. Genes on this panel are associated with congenital myopathies caused by actin-related defects, congenital myopathy with fiber-type disproportion, early-onset myofibrillar myopathy, X-linked myotubular myopathy, nemaline myopathy, centronuclear myopathy, and other selected genes. Some exons of the NEB gene have significant homology that impairs our ability to identify variants in these regions. In addition, our method cannot identify the Ashkenazi Jewish founder deletion mutation in the NEB gene that includes exon 55.
Genes:
ACTA1, BIN1, CCDC78, CFL2, CNTN1, COL6A1, COL6A2, COL6A3, CRYAB, DNM2, FHL1, FKBP14, KBTBD13, KLHL40, KLHL41, LMOD3, MEGF10, MTM1, MYH7, NEB, RYR1, SELENON, STAC3, TNNT1, TPM2, TPM3, TTN

    devACT Developmental Delay Clinical Management Panel (266 genes)

This panel tests genes that inform actionable clinical management of patients with developmental delay, intellectual disability, and autism spectrum disorders.
Genes:
AASS, ABAT, ABCD1, ABCD3, ABCD4, ACAD8, ACAD9, ACADM, ACADS, ACADVL, ACAT1, ACOX1, ADSL, AGA, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMN, AMT, APTX, ARG1, ARSA, ARSB, ASAH1, ASL, ASPA, ASS1, ATP13A2, ATP7A, ATP7B, AUH, B4GALT1, BCKDHA, BCKDHB, BCKDK, BTD, CACNA1H, CBS, CHAT, CISD2, CLN3, CLN5, CLN6, CLN8, COG1, COG4, COG5, COG6, COG7, COG8, COQ2, COQ8A, COQ9, CP, CPS1, CPT1A, CPT2, CTNS, CTSA, CTSD, CTSF, CUBN, CYP27A1, DBH, DBT, DDC, DDOST, DHCR7, DHDDS, DHFR, DLAT, DLD, DNAJC5, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ETFA, ETFB, ETFDH, ETHE1, FKRP, FKTN, FOLR1, FOLR2, FPGS, FTCD, FUCA1, GAA, GALC, GALNS, GAMT, GATM, GCDH, GCH1, GCSH, GFAP, GIF, GK, GLA, GLB1, GLDC, GLUD1, GM2A, GMPPA, GNE, GNPAT, GNPTAB, GNPTG, GNS, GRN, GUSB, HADH, HADHA, HADHB, HEXA, HEXB, HGSNAT, HLCS, HMGCL, HMGCS2, HPRT1, HSD17B10, HYAL1, IDS, IDUA, ISPD, IVD, KCTD7, L2HGDH, LARGE1, LARS2, LIPA, LMBRD1, MAGT1, MAN1B1, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MFSD8, MGAT2, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTR, MTRR, MUT, NAGA, NAGLU, NAGS, NDUFA1, NEU1, NPC1, NPC2, NT5C3A, OTC, OXCT1, PAH, PANK2, PCBD1, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PGM1, PHGDH, PHYH, PMM2, PNPO, POLG, POMGNT1, POMT1, POMT2, PPT1, PRPS1, PSAP, PSAT1, PSPH, PTS, QDPR, RFT1, SCN1A, SGSH, SLC16A2, SLC17A5, SLC19A1, SLC19A2, SLC19A3, SLC22A5, SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC25A32, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A3, SLC6A4, SLC6A8, SMPD1, SPR, SRD5A3, SSR4, ST3GAL3, STT3A, STT3B, SUMF1, SUOX, TAT, TH, TIMM8A, TMEM165, TMLHE, TPH1, TPH2, TPP1, TRAP1, TUBA1A, TUSC3

    devSEEK Developmental Delay Disorder Panel (234 genes)

This panel tests genes implicated in syndromic and non-syndromic developmental delay, intellectual disability and autism spectrum disorders.
Genes:
ABCD1, ACSL4, ADAT3, ADNP, AFF2, AIFM1, ALDH5A1, ALG6, AMT, ANK3, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARFGEF2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARX, ATP6AP2, ATP7A, ATRX, BCKDK, BCOR, BRAF, BRWD3, C12orf57, CA8, CACNA1C, CASK, CBL, CC2D1A, CCDC22, CDH15, CDKL5, CHD7, CHD8, CLCN4, CLIC2, CLIP1, CNKSR2, CNTNAP2, CRBN, CREBBP, CTCF, CTNNB1, CUL4B, D2HGDH, DCX, DDHD2, DEAF1, DHCR7, DKC1, DLG3, DMD, DNMT3A, DYNC1H1, DYRK1A, EBP, EHMT1, ERLIN2, EZR, FAAH2, FANCB, FGD1, FGF8, FLNA, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FRMPD4, FTSJ1, GABRB3, GATAD2B, GDI1, GJB1, GK, GPC3, GRIA3, GRIK2, GRIN2A, GRIN2B, GSPT2, HCCS, HCFC1, HDAC8, HOXA1, HPRT1, HRAS, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KCNJ10, KDM5C, KIAA2022, KIF1A, KIRREL3, KLF8, KMT2D, KPTN, KRAS, L1CAM, L2HGDH, LAMC3, LAMP2, LAS1L, LINS1, MAN1B1, MAOA, MAP2K1, MAP2K2, MBD5, MBTPS2, MECP2, MED12, MED23, MEF2C, METTL23, MID1, NAA10, NDP, NDST1, NDUFA1, NF1, NHS, NIPBL, NLGN3, NLGN4X, NRAS, NRXN1, NSD1, NSDHL, NSUN2, OCRL, OFD1, OPHN1, OTC, PACS1, PAFAH1B1, PAK3, PCDH19, PCNT, PDHA1, PGAP1, PGK1, PHF6, PHF8, PLP1, PNKP, PORCN, PQBP1, PRPS1, PRSS12, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAB40AL, RAD21, RAF1, RAI1, RBM10, RELN, RPL10, RPS6KA3, SCN1A, SCN2A, SETBP1, SETD2, SETD5, SHANK2, SHANK3, SHOC2, SLC16A2, SLC25A1, SLC2A1, SLC6A17, SLC6A8, SLC9A6, SLC9A9, SMARCB1, SMC1A, SMC3, SMS, SOS1, SOX11, SOX3, SPRED1, SRPX2, ST3GAL3, STXBP1, SYN1, SYNGAP1, SYP, TAF2, TBL1XR1, TBR1, TBX1, TCF4, TECR, THOC2, TIMM8A, TMEM231, TMLHE, TRAPPC9, TSC1, TSC2, TSPAN7, TTI2, TUBA1A, TUSC3, UBE2A, UBE3A, UPF3B, USP9X, VLDLR, VPS13B, WDR13, ZC4H2, ZDHHC15, ZDHHC9, ZEB2, ZMYND11, ZNF711, ZNF81

    devSEEK Triome Autism Spectrum & Developmental Delay Disorder Panel (1104 genes)

This panel is designed to provide the most complete picture. It employs powerful trio analysis, by fully sequencing the parent’s samples along with the patient, to enable extensive genetic analysis and clinical interpretation of an expanded selection of genes (over 1,100) associated with developmental delay, and intellectual disability, and many additional genes that have recently been associated with autism spectrum disorder.
Genes:
AAAS, AASS, ABAT, ABCB7, ABCC1, ABCC9, ABCD1, ABCD4, ABHD5, ACACB, ACAD9, ACADM, ACADS, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ACVR1, ACY1, ADAM33, ADAR, ADAT3, ADGRG1, ADNP, ADSL, AFF2, AFG3L2, AGA, AGK, AGL, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG9, ALMS1, ALX1, ALX3, ALX4, AMER1, AMN, AMPD2, AMT, ANK2, ANK3, ANKRD11, AP1S1, AP1S2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, APOPT1, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL6, ARSA, ARSB, ARSE, ARX, ASAH1, ASAH2, ASH1L, ASL, ASPA, ASPM, ASS1, ASXL1, ASXL3, ATIC, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP1B1, ATP2A2, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATR, ATRX, AUH, AUTS2, B3GALNT2, B3GALT6, B3GLCT, B4GALT1, B4GALT7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCOR, BCS1L, BICD2, BIN1, BLM, BMP4, BMPER, BOLA3, BRAF, BRAT1, BRF2, BRWD1, BRWD3, BSCL2, BSND, BTD, BTN1A1, BUB1B, C12orf57, C12orf65, C2CD3, C5orf42, CA2, CA5A, CA8, CACNA1C, CACNA1D, CACNA2D3, CACNG2, CAMTA1, CANT1, CASK, CBL, CBS, CBX4, CC2D1A, CC2D2A, CCBE1, CCDC22, CCDC78, CCDC88C, CCND2, CD96, CDC6, CDH15, CDH2, CDK16, CDK5RAP2, CDKL5, CDKN1C, CDON, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP57, CEP63, CEP83, CFL2, CHAMP1, CHD2, CHD7, CHD8, CHKB, CHMP1A, CHRNA1, CHRNA4, CHRNB2, CHRND, CHST14, CHST3, CIB2, CKAP2L, CLCN4, CLCNKB, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPP, CNKSR2, CNOT3, CNTN6, CNTNAP2, COASY, COG1, COG4, COG5, COG6, COG8, COL11A2, COL18A1, COL1A1, COL1A2, COL25A1, COL2A1, COL4A1, COL4A2, COL4A3BP, COLEC11, COQ2, COQ8A, COQ9, COX10, COX15, COX6B1, COX7B, CP, CPA6, CPS1, CPT1A, CPT2, CRBN, CREBBP, CSDE1, CSPP1, CSTB, CSTF2T, CTC1, CTCF, CTDP1, CTNNB1, CTNS, CTSA, CTSD, CTSF, CTTNBP2, CUBN, CUL3, CUL4B, CYB5R3, CYP27A1, CYP2U1, D2HGDH, DAG1, DARS, DARS2, DBT, DCHS1, DCX, DDC, DDHD1, DDHD2, DDOST, DDR2, DDX11, DDX3X, DDX59, DEAF1, DEPDC5, DHCR24, DHCR7, DHFR, DHTKD1, DIP2A, DIP2C, DIS3L2, DISC1, DKC1, DLAT, DLD, DLG3, DLL1, DMD, DMPK, DNAH5, DNAJC5, DNM1, DNMT3A, DNMT3B, DOCK6, DOCK7, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPYD, DSCAM, DST, DYM, DYNC1H1, DYRK1A, EBP, ECM2, EDNRB, EEF1A2, EFCAB5, EFNB1, EFTUD2, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4A3, ELAC2, ELOVL4, EP300, EPB41L1, EPG5, EPHB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC6, ERCC8, ERF, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYA1, EZH2, FAH, FAM111A, FAM126A, FAM8A1, FAM91A1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCL, FAR1, FARP1, FAT4, FBN1, FBP1, FBXL4, FCRL6, FGD1, FGF14, FGF3, FGF8, FGFR1, FGFR2, FGFR3, FH, FHL1, FIG4, FKBP14, FKRP, FKTN, FLNA, FLNB, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXC1, FOXG1, FOXP1, FOXP2, FOXRED1, FRAS1, FREM2, FREM3, FRMPD4, FTCD, FTL, FTSJ1, FUCA1, G6PC3, GAA, GABRA1, GABRB3, GALC, GALE, GALNT18, GALT, GAMT, GAN, GATA2, GATA6, GATAD2B, GATM, GBA2, GBE1, GCDH, GCH1, GCSH, GDI1, GFAP, GFM1, GIGYF1, GIMAP8, GJA1, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAO1, GNAS, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPC3, GPHN, GPSM2, GPT2, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, GSS, GTF2H5, GUSB, HACE1, HADH, HADHB, HAX1, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HEPACAM, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HLCS, HMGCL, HOXA1, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HSPG2, HUWE1, HYAL1, HYLS1, IDS, IDUA, IFIH1, IFT140, IFT172, IGBP1, IGF1, IGF1R, IGF2, IKBKG, IL1RAPL1, ILF2, INPP5E, INSR, IQGAP2, IQSEC2, IRX5, ISPD, ITCH, ITGA7, ITPR1, IVD, JAG1, JAM3, KANK1, KANSL1, KARS, KAT6A, KAT6B, KATNAL2, KCNA1, KCNC3, KCNH1, KCNJ10, KCNJ11, KCNQ2, KCNT1, KCTD7, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0586, KIAA2022, KIF11, KIF1A, KIF21A, KIF22, KIF2A, KIF5A, KIF5C, KIF7, KIRREL3, KLF8, KLHL15, KMT2A, KMT2C, KMT2D, KMT2E, KMT5B, KPTN, KRAS, KRIT1, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LARP7, LAS1L, LHX3, LIG4, LINS1, LMBRD1, LMNA, LMTK3, LRP2, LRP5, LRPPRC, LYST, MAB21L2, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MAP3K14, MASP1, MAT1A, MBD5, MBTPS2, MC2R, MCCC1, MCOLN1, MCPH1, MECP2, MED12, MED13L, MED17, MED23, MEF2C, MEGF10, METTL23, MFSD8, MGAT2, MGP, MICU1, MID1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MNX1, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MPLKIP, MPV17, MRE11, MTFMT, MTHFR, MTO1, MTR, MTRR, MTTP, MUT, MVK, MYCN, MYH10, MYO5A, MYO7A, MYT1L, NAA10, NAGA, NAGLU, NAGS, NALCN, NAPRT, NAXD, NBN, NCKAP1, NDE1, NDP, NDST1, NDUFA1, NDUFAF2, NDUFAF5, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEB, NEK1, NEU1, NF1, NFIA, NFIX, NFKBIL1, NFU1, NGF, NGLY1, NHP2, NHS, NIPBL, NKX2-1, NKX2-5, NLGN3, NLGN4X, NLRP3, NPC1, NPC2, NPHP1, NPHP3, NR2F1, NR3C2, NRAS, NRXN1, NRXN2, NSD1, NSDHL, NSUN2, NTRK1, NUAK1, NUBPL, NUP62, OCLN, OCRL, OFD1, OPHN1, ORC1, OTC, OTX2, P3H1, PACS1, PAFAH1B1, PAFAH1B2, PAH, PAK3, PANK2, PAX2, PAX3, PAX5, PAX6, PAX8, PBRM1, PC, PCBD1, PCCA, PCCB, PCDH19, PCGF2, PCNT, PCOLCE, PDCD1, PDCD10, PDE4D, PDHA1, PDHX, PDP1, PDSS1, PEPD, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM3, PHF10, PHF2, PHF6, PHF7, PHF8, PHGDH, PHKA2, PHKG2, PHOX2B, PHYH, PIEZO2, PIGA, PIGL, PIGO, PIGT, PIGV, PIK3CA, PIK3R1, PIK3R2, PLA2G6, PLCB1, PLK4, PLOD1, PLP1, PMM2, PNKP, PNP, PNPO, PNPT1, POGZ, POLG, POLR3A, POLR3B, POLRMT, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, PPM1D, PPP2R1A, PPP2R5D, PPT1, PQBP1, PRICKLE1, PRKAR1A, PRMT7, PRODH, PRPS1, PRRT2, PRSS12, PSAP, PSAT1, PSMB8, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTK7, PTPN11, PTS, PURA, PYCR1, QARS, QDPR, RAB18, RAB23, RAB27A, RAB2A, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAD21, RAD21L1, RAF1, RAI1, RAPSN, RARB, RARS2, RBBP8, RBM10, RBM8A, RBPJ, RECQL4, RELN, RFT1, RIMS1, RIT1, RLIM, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF38, ROGDI, ROR2, RP1L1, RPE65, RPGRIP1L, RPL10, RPS19, RPS6KA3, RRAS, RTEL1, RTTN, RYR1, S100G, SACS, SALL1, SAMHD1, SATB2, SBDS, SBF1, SC5D, SCN11A, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, SCP2, SCUBE2, SDCCAG8, SDHA, SDHAF1, SERAC1, SETBP1, SETD2, SETD5, SF3B4, SGSH, SHANK1, SHANK2, SHANK3, SHH, SHOC2, SIL1, SIX3, SKI, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A39, SLC2A1, SLC2A10, SLC2A2, SLC33A1, SLC35A2, SLC35C1, SLC46A1, SLC4A4, SLC52A3, SLC5A5, SLC6A17, SLC6A3, SLC6A5, SLC6A8, SLC7A7, SLC9A6, SLC9A9, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCC1, SMARCC2, SMC1A, SMOC1, SMPD1, SMS, SNAP29, SNRPB, SNRPN, SNX14, SOBP, SOS1, SOX10, SOX11, SOX2, SOX3, SPAST, SPATA13, SPATA5, SPEG, SPEN, SPG11, SPG7, SPR, SPRED1, SPTAN1, SPTBN1, SRCAP, SRD5A3, SRPX2, SSR4, ST3GAL3, ST3GAL5, STAMBP, STIL, STRA6, STT3A, STT3B, STX11, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYP, SYT14, SZT2, TAC3, TACO1, TAF1, TAF2, TAT, TAZ, TBC1D23, TBC1D24, TBCE, TBL1XR1, TBR1, TBX1, TBX3, TCF12, TCF4, TCF7L2, TCTN1, TCTN2, TCTN3, TECPR2, TECR, TFAP2A, TFAP2B, TGFB1, TGFBR1, TGFBR2, TGIF1, TH, THOC2, THRA, THRB, THSD7A, TIMM8A, TINF2, TK2, TMCO1, TMEM165, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TMEM70, TMLHE, TNRC6B, TOR1A, TP63, TPK1, TPP1, TRAPPC11, TRAPPC9, TREX1, TRIM17, TRIM37, TRIO, TRIP12, TRMT1, TROVE2, TRPM5, TRPV4, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSPAN17, TSPAN7, TTC19, TTC37, TTC8, TTI2, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBGCP6, TUFM, TUSC3, UBE2A, UBE3A, UBE3B, UBN2, UBR1, UBR3, UGT1A1, UMPS, UNC80, UPB1, UPF3B, UQCRQ, UROC1, USP15, USP27X, USP9X, VCP, VIPAS39, VLDLR, VPS13B, VPS33B, VRK1, WAC, WDFY3, WDR45, WDR62, WDR81, WNT1, WNT5A, XPA, XYLT1, YAP1, YY1, ZBTB20, ZBTB24, ZC4H2, ZDHHC15, ZDHHC9, ZEB2, ZFHX3, ZFYVE26, ZIC2, ZMYND11, ZNF711, ZNF81, ZSWIM6

    devSEEK/devACT Comprehensive (472 genes)

This panel combines the devACT and devSEEK test panels to test genes implicated in metabolically-based, as well as syndromic and non-syndromic forms of Developmental Delay, Intellectual Disability and Autism Spectrum Disorders.
Genes:
AASS, ABAT, ABCD1, ABCD3, ABCD4, ACAD8, ACAD9, ACADM, ACADS, ACADVL, ACAT1, ACOX1, ACSL4, ADAT3, ADNP, ADSL, AFF2, AGA, AIFM1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMN, AMT, ANK3, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, APTX, ARFGEF2, ARG1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARSA, ARSB, ARX, ASAH1, ASL, ASPA, ASS1, ATP13A2, ATP6AP2, ATP7A, ATP7B, ATRX, AUH, B4GALT1, BCKDHA, BCKDHB, BCKDK, BCOR, BRAF, BRWD3, BTD, C12orf57, CA8, CACNA1C, CACNA1H, CASK, CBL, CBS, CC2D1A, CCDC22, CDH15, CDKL5, CHAT, CHD7, CHD8, CISD2, CLCN4, CLIC2, CLIP1, CLN3, CLN5, CLN6, CLN8, CNKSR2, CNTNAP2, COG1, COG4, COG5, COG6, COG7, COG8, COQ2, COQ8A, COQ9, CP, CPS1, CPT1A, CPT2, CRBN, CREBBP, CTCF, CTNNB1, CTNS, CTSA, CTSD, CTSF, CUBN, CUL4B, CYP27A1, D2HGDH, DBH, DBT, DCX, DDC, DDHD2, DDOST, DEAF1, DHCR7, DHDDS, DHFR, DKC1, DLAT, DLD, DLG3, DMD, DNAJC5, DNMT3A, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DYNC1H1, DYRK1A, EBP, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EZR, FAAH2, FANCB, FGD1, FGF8, FKRP, FKTN, FLNA, FMN2, FMR1, FOLR1, FOLR2, FOXG1, FOXP1, FOXP2, FPGS, FRMPD4, FTCD, FTSJ1, FUCA1, GAA, GABRB3, GALC, GALNS, GAMT, GATAD2B, GATM, GCDH, GCH1, GCSH, GDI1, GFAP, GIF, GJB1, GK, GLA, GLB1, GLDC, GLUD1, GM2A, GMPPA, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPC3, GRIA3, GRIK2, GRIN2A, GRIN2B, GRN, GSPT2, GUSB, HADH, HADHA, HADHB, HCCS, HCFC1, HDAC8, HEXA, HEXB, HGSNAT, HLCS, HMGCL, HMGCS2, HOXA1, HPRT1, HRAS, HSD17B10, HUWE1, HYAL1, IDS, IDUA, IGBP1, IL1RAPL1, IQSEC2, ISPD, IVD, KCNJ10, KCTD7, KDM5C, KIAA2022, KIF1A, KIRREL3, KLF8, KMT2D, KPTN, KRAS, L1CAM, L2HGDH, LAMC3, LAMP2, LARGE1, LARS2, LAS1L, LINS1, LIPA, LMBRD1, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MBD5, MBTPS2, MCCC1, MCCC2, MCEE, MECP2, MED12, MED23, MEF2C, METTL23, MFSD8, MGAT2, MID1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTR, MTRR, MUT, NAA10, NAGA, NAGLU, NAGS, NDP, NDST1, NDUFA1, NEU1, NF1, NHS, NIPBL, NLGN3, NLGN4X, NPC1, NPC2, NRAS, NRXN1, NSD1, NSDHL, NSUN2, NT5C3A, OCRL, OFD1, OPHN1, OTC, OXCT1, PACS1, PAFAH1B1, PAH, PAK3, PANK2, PCBD1, PCCA, PCCB, PCDH19, PCNT, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PGM1, PHF6, PHF8, PHGDH, PHYH, PLP1, PMM2, PNKP, PNPO, POLG, POMGNT1, POMT1, POMT2, PORCN, PPT1, PQBP1, PRPS1, PRSS12, PSAP, PSAT1, PSPH, PTCHD1, PTEN, PTPN11, PTS, PURA, QDPR, RAB39B, RAB40AL, RAD21, RAF1, RAI1, RBM10, RELN, RFT1, RPL10, RPS6KA3, SCN1A, SCN2A, SETBP1, SETD2, SETD5, SGSH, SHANK2, SHANK3, SHOC2, SLC16A2, SLC17A5, SLC19A1, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC25A32, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A17, SLC6A3, SLC6A4, SLC6A8, SLC9A6, SLC9A9, SMARCB1, SMC1A, SMC3, SMPD1, SMS, SOS1, SOX11, SOX3, SPR, SPRED1, SRD5A3, SRPX2, SSR4, ST3GAL3, STT3A, STT3B, STXBP1, SUMF1, SUOX, SYN1, SYNGAP1, SYP, TAF2, TAT, TBL1XR1, TBR1, TBX1, TCF4, TECR, TH, THOC2, TIMM8A, TMEM165, TMEM231, TMLHE, TPH1, TPH2, TPP1, TRAP1, TRAPPC9, TSC1, TSC2, TSPAN7, TTI2, TUBA1A, TUSC3, UBE2A, UBE3A, UPF3B, USP9X, VLDLR, VPS13B, WDR13, ZC4H2, ZDHHC15, ZDHHC9, ZEB2, ZMYND11, ZNF711, ZNF81

    Distal Myopathy Spotlight Panel (19 genes)

This panel tests for genes associated with distal myopathies, a group of disorders that cause muscle weakness that starts in the hands, feet, fingers and toes. Genes on this panel are associated with distal myopathies such as Laing distal myopathy, distal myopathy 2, Miyoshi myopathy, CAV3-related distal myopathy and others. Knowledge of the type of distal myopathy may inform the patient’s prognosis. Some exons of the NEB gene have significant homology that impairs our ability to identify variants in these regions. In addition, our method cannot identify the Ashkenazi Jewish founder deletion mutation in the NEB gene that includes exon 55.
Genes:
ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, NEB, TIA1, TTN, VCP

    Dystonia Spotlight Panel (19 genes)

This panel tests for genes associated with dystonias, a group of often heritable movement disorders characterized by involuntary and sometimes painful movements.
Genes:
ANO3, ATP1A3, CACNA1B, GCH1, GNAL, HPCA, KCTD17, PARK2, PNKD, PRKRA, PRRT2, SGCE, SLC2A1, SLC6A3, SPR, TH, THAP1, TOR1A, TUBB4A

    Ehlers-Danlos Syndrome Spotlight Panel (10 genes)

This panel tests for Ehlers-Danlos syndrome, a group of connective tissue disorders that primarily affect the skin and joints. Blood vessels may also be involved in some subtypes. Genes on this panel will identify the most common known genetic types of EDS, including vascular type EDS IV.
Genes:
ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, TNXB

    Ehlers-Danlos Syndrome, Atypical Spotlight Panel (11 genes)

This panel tests for syndromes with Ehlers-Danlos features with additional finding beyond those of the well-classified types of EDS. The Ehlers-Danlos syndromes are a group of connective tissue disorders that primarily affect the skin, joints, and in some types, the blood vessels. Genes on this panel are associated with atypical presentations of EDS-type conditions, which may additionally include skeletal findings, dysmorphism, myopathy, neurologic/developmental, or specific organ system findings (such as periodontal, eye findings, hearing loss).
Genes:
B3GALT6, B4GALT7, C1R, C1S, DSE, FKBP14, FLNA, PRDM5, SLC2A10, SLC39A13, ZNF469

    EIEE – Early Infantile Epileptic Encephalopathy Spotlight Panel (23 genes)

This panel tests for genes associated with early infantile epileptic encephalopathies.
Genes:
ALG13, ARHGEF9, ARX, CDKL5, CHD2, FOXG1, GABRA1, GRIN2A, GRIN2B, HCN1, KCNA2, KCNQ2, KCNT1, MAPK10, PCDH19, PLCB1, SCN2A, SCN8A, SLC25A22, SLC35A2, SPTAN1, STXBP1, TBC1D24

    epiSEEK Comprehensive Epilepsy Panel (465 genes)

This panel provides extensive genetic analysis and clinical interpretation of a broad range of genes associated with epileptic and seizure disorder phenotypes.
Genes:
ABAT, ABCC8, ACOX1, ACY1, ADGRG1, ADGRV1, ADSL, AGA, AHI1, AKT3, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMT, APTX, ARFGEF2, ARG1, ARHGEF9, ARL13B, ARSA, ARSB, ARX, ASAH1, ASPA, ASPM, ATIC, ATP1A2, ATP1A3, ATP2A2, ATP5A1, ATP6AP2, ATP6V0A2, ATP7A, ATPAF2, ATR, ATRX, B4GALT1, BCKDHA, BCKDHB, BCKDK, BCS1L, BRAF, BRAT1, BRD2, BTD, BUB1B, C12orf57, C12orf65, CACNA1A, CACNA1H, CACNB4, CASK, CASR, CBL, CC2D2A, CCDC88C, CDK5RAP2, CDKL5, CDON, CENPJ, CEP152, CEP290, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLCNKA, CLCNKB, CLN3, CLN5, CLN6, CLN8, CNR1, CNR2, CNTN2, CNTNAP2, COG1, COG4, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COQ2, COQ8A, COQ9, COX10, COX15, CPT1A, CPT2, CSTB, CTSA, CTSD, CTSF, CUL4B, CYP2C19, CYP2C9, CYP3A4, CYP3A5, DBT, DCLK2, DCX, DDC, DDOST, DEPDC5, DHCR7, DLD, DLGAP2, DNAJC5, DOLK, DPAGT1, DPM1, DPM3, DPYD, DYRK1A, EFHC1, EFHC2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP4, EMX2, EOMES, EPM2A, ETFA, ETFB, ETFDH, FAAH, FGD1, FGF8, FGFR3, FH, FKRP, FKTN, FLNA, FLVCR2, FOLR1, FOXG1, FOXH1, FUCA1, GABBR1, GABBR2, GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ, GABRR1, GABRR2, GABRR3, GALC, GALNS, GAMT, GATM, GCDH, GCSH, GFAP, GJD2, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLUD1, GLUL, GNE, GNPTAB, GNPTG, GNS, GOSR2, GPC3, GPHN, GPR55, GRIA3, GRIN1, GRIN2A, GRIN2B, GUSB, HCN1, HCN2, HCN3, HCN4, HERC2, HEXA, HEXB, HGSNAT, HNRNPU, HPD, HRAS, HSD17B10, HSD17B4, HYAL1, IDH2, IDS, IDUA, INPP5E, IQSEC2, JRK, KANSL1, KAT6B, KCNA1, KCNAB1, KCNJ1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNV2, KCTD7, KDM5C, KIF1BP, KMT2D, KRAS, L2HGDH, LAMA2, LARGE1, LBR, LGI1, LIAS, LIG4, LRPPRC, MAGI2, MAGT1, MAP2K1, MAP2K2, MAPK10, MBD5, MCOLN1, MCPH1, ME2, MECP2, MED12, MED17, MEF2C, MFSD8, MGAT2, MGLL, MGME1, MLC1, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTOR, MTR, MTRR, NAGLU, NDE1, NDUFA1, NDUFA2, NDUFAF6, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEDD4L, NEU1, NF1, NGLY1, NHEJ1, NHLRC1, NIPBL, NODAL, NOTCH3, NPC1, NPC2, NPHP1, NRAS, NRXN1, OFD1, OPA1, OPHN1, PAFAH1B1, PAK3, PANK2, PAX6, PC, PCDH19, PCNT, PDHA1, PDHX, PDSS1, PDSS2, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PGM1, PHF6, PHGDH, PIGV, PIK3CA, PIK3R2, PLA2G6, PLCB1, PLP1, PMM2, PNKP, PNPO, POLG, POMGNT1, POMT1, POMT2, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRODH, PRRT2, PSAP, PSAT1, PTCH1, PTPN11, QDPR, RAB39B, RAB3GAP1, RAF1, RAI1, RARS2, RBFOX1, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RPGRIP1L, RTTN, SAMHD1, SCARB2, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN7A, SCN8A, SCN9A, SCO2, SDHA, SERPINI1, SETBP1, SGCE, SGSH, SHH, SHOC2, SIX3, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC4A10, SLC6A4, SLC6A5, SLC6A8, SLC9A6, SMC1A, SMC3, SMPD1, SMS, SNAP25, SNAP29, SNIP1, SOS1, SPRED1, SPTAN1, SRD5A3, SRPX2, ST3GAL3, ST3GAL5, STIL, STRADA, STXBP1, SUCLA2, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYP, TACO1, TBC1D24, TBX1, TCF4, TGIF1, TMEM165, TMEM216, TMEM67, TMEM70, TPP1, TREX1, TRPM6, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUSC3, UBE3A, VANGL1, VDAC1, VPS13B, VRK1, WDR62, ZEB2, ZIC2

    epiSEEK Focus Epilepsy Panel (76 genes)

This panel provides extensive genetic analysis and clinical interpretation of genes related to early onset epilepsy and seizure disorders.
Genes:
ADSL, ALDH7A1, ARHGEF9, ARX, ATP1A2, ATP6AP2, CACNB4, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DNAJC5, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GATM, GOSR2, GRIN2A, GRIN2B, KANSL1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, LIAS, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, SRPX2, STXBP1, SYN1, SYNGAP1, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, ZEB2

    epiSEEK Triome Epilepsy Panel (1060 genes)

This panel is designed to provide the most complete picture for epilepsy and seizure disorders. It employs powerful trio analysis, by fully sequencing the parent’s samples along with the patient, to enable extensive genetic analysis and clinical interpretation of an expanded selection of genes (over 1,000) associated with neurological function, and epileptic and seizure disorder phenotypes.
Genes:
AAAS, AARS2, AASS, ABAT, ABCB7, ABCC8, ABCC9, ABCD1, ABCD3, ABHD12, ACAD9, ACADM, ACADS, ACADSB, ACO2, ACOX1, ACSF3, ACTB, ACTG1, ACVR1, ACVRL1, ACY1, ADAMTS13, ADAMTSL2, ADAR, ADCY5, ADGRG1, ADGRV1, ADK, ADNP, ADORA2A, ADRA2B, ADSL, AFG3L2, AGA, AHI1, AIFM1, AIMP1, AKT1, AKT2, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, AMACR, AMER1, AMPD2, AMT, ANK3, ANKH, ANKRD11, ANO10, ANO3, AP1S2, AP4E1, APOPT1, APTX, AQP2, ARFGEF2, ARG1, ARHGAP31, ARHGEF15, ARHGEF9, ARID1A, ARID1B, ARL13B, ARNT2, ARSA, ARSB, ARX, ASAH1, ASCL1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ATCAY, ATIC, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP2B3, ATP5A1, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATPAF2, ATR, ATRX, ATXN10, AUH, AUTS2, AVPR2, B3GALNT2, B3GLCT, B4GALT1, B4GAT1, B9D1, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL10, BCOR, BCS1L, BDNF, BMP4, BOLA3, BRAF, BRAT1, BRD2, BSCL2, BTD, BUB1B, C12orf57, C12orf65, C19orf12, C5orf42, CA8, CACNA1A, CACNA1B, CACNA1D, CACNA1G, CACNA1H, CACNA2D2, CACNB4, CACNG3, CAD, CADPS2, CAMK2A, CASK, CASQ2, CASR, CBL, CBS, CC2D2A, CCBE1, CCDC88C, CCM2, CD96, CDK5RAP2, CDKL5, CDON, CECR1, CENPJ, CEP152, CEP164, CEP290, CEP41, CERS1, CHD2, CHD8, CHKB, CHMP2B, CHN1, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CKAP2L, CLCN2, CLCN4, CLCNKA, CLCNKB, CLDN16, CLIC2, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CNKSR2, CNNM2, CNR1, CNR2, CNTN2, CNTN5, CNTNAP1, CNTNAP2, COG1, COG4, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COL6A2, COL6A3, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX7B, CP, CPA6, CPS1, CPT1A, CPT2, CRB2, CREBBP, CRH, CRLF1, CSPP1, CSTB, CTC1, CTNNB1, CTSA, CTSD, CTSF, CUL4B, CYP27A1, CYP27B1, CYP2C19, CYP2C9, CYP3A4, CYP3A5, D2HGDH, DARS2, DBH, DBT, DCLK2, DCX, DDC, DDOST, DDX3X, DEPDC5, DGUOK, DHCR24, DHCR7, DHFR, DIAPH1, DIS3L2, DLAT, DLD, DLG3, DLGAP2, DNAJC19, DNAJC5, DNAJC6, DNM1, DNM1L, DNMT3A, DOCK6, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DRD2, DYNC1H1, DYRK1A, EARS2, ECM1, EDN3, EEF1A2, EFHC1, EFHC2, EFTUD2, EGF, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELP4, EMG1, EMX2, ENG, EOGT, EOMES, EPG5, EPM2A, ERCC2, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN2, ERMARD, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EZH2, FA2H, FAAH, FADD, FAM111A, FAM126A, FAM58A, FAR1, FARS2, FASN, FASTKD2, FAT4, FBP1, FBXL4, FBXO7, FGD1, FGF23, FGF8, FGFR1, FGFR2, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXH1, FOXP1, FOXRED1, FTL, FTO, FTSJ1, FUCA1, FXYD2, G6PC, GAA, GABBR1, GABBR2, GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ, GABRR1, GABRR2, GABRR3, GAD1, GAL, GALC, GALNS, GALT, GAMT, GATA3, GATA6, GATM, GBA2, GCDH, GCH1, GCK, GCM2, GCSH, GDNF, GFAP, GFM1, GJA1, GJB1, GJC2, GJD2, GK, GLA, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAO1, GNAQ, GNAS, GNE, GNPTAB, GNPTG, GNS, GOSR2, GPC3, GPHN, GPR55, GPSM2, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, GSS, GTPBP3, GUCY1A3, GUSB, GYS1, GYS2, H3F3B, HADH, HAX1, HCCS, HCFC1, HCN1, HCN2, HCN3, HCN4, HDAC4, HDAC8, HEPACAM, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HLCS, HMBS, HMGCS2, HNRNPU, HPCA, HPD, HRAS, HSD17B10, HSD17B4, HSPD1, HYAL1, IDH2, IDS, IDUA, IER3IP1, IFIH1, IKBKAP, IKBKG, IL1RAPL1, INPP5E, INS, INSR, IQSEC2, ISPD, IVD, JAM3, JRK, KANSL1, KARS, KAT6A, KAT6B, KATNB1, KCNA1, KCNA2, KCNA6, KCNAB1, KCNB1, KCNC1, KCND2, KCNH1, KCNH2, KCNH5, KCNJ1, KCNJ10, KCNJ11, KCNJ2, KCNJ6, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNV2, KCTD17, KCTD7, KDM5C, KDM6A, KIAA2022, KIF11, KIF1A, KIF1BP, KIF1C, KIF2A, KIF4A, KIF5C, KIF7, KMT2A, KMT2D, KPNA7, KPTN, KRAS, KRIT1, KRT81, KRT86, L1CAM, L2HGDH, LAMA2, LAMB1, LAMC3, LARGE1, LARS, LBR, LGI1, LGI4, LIAS, LIG4, LMBRD1, LONP1, LRP2, LRPPRC, LYST, MAF, MAGEL2, MAGI2, MAGT1, MAN1B1, MANBA, MAP2K1, MAP2K2, MAPK10, MBD5, MBTPS2, MC2R, MCCC1, MCOLN1, MCPH1, ME2, MECP2, MED12, MED13L, MED17, MED25, MEF2C, MEFV, MEGF10, METTL23, MFN2, MFSD8, MGAT2, MGLL, MGME1, MGP, MICU1, MID2, MKS1, MLC1, MLYCD, MMAA, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPDZ, MPI, MPV17, MPZ, MRPL12, MRPS22, MSX2, MTFMT, MTHFR, MTM1, MTO1, MTOR, MTR, MTRR, MUT, MVK, MYH14, MYH3, MYO5A, NAA10, NADK2, NAGA, NAGLU, NAGS, NALCN, NARS2, NAT8L, NDE1, NDN, NDP, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NECTIN1, NEDD4L, NEU1, NF1, NFIA, NFIX, NGLY1, NHEJ1, NHLRC1, NIN, NIPA1, NIPA2, NIPBL, NLGN4X, NME1, NOL3, NOTCH1, NOTCH3, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NR2F1, NRAS, NRXN1, NSD1, NSDHL, NSUN2, NUBPL, OCLN, OCRL, OFD1, OPA1, OPA3, OPHN1, OTC, OTX2, PACS1, PAFAH1B1, PAH, PAK3, PANK2, PARK2, PAX2, PAX6, PC, PCBD1, PCCA, PCCB, PCDH19, PCK1, PCLO, PCNT, PDCD10, PDE6D, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHF6, PHGDH, PHOX2B, PIEZO2, PIGA, PIGL, PIGM, PIGN, PIGO, PIGQ, PIGT, PIGV, PIGW, PIK3CA, PIK3R2, PINK1, PLA2G6, PLCB1, PLK4, PLP1, PMM2, PMP22, PNKP, PNP, PNPLA6, PNPLA8, PNPO, PNPT1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PPT1, PQBP1, PRF1, PRICKLE1, PRICKLE2, PRKAG2, PRKDC, PRKRA, PROC, PRODH, PROK2, PROKR2, PROP1, PRPS1, PRRT2, PSAP, PSAT1, PSMB8, PSPH, PTCH1, PTCH2, PTEN, PTF1A, PTH, PTPN11, PTS, PURA, QARS, QDPR, RAB18, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAF1, RAI1, RANBP2, RARS, RARS2, RBFOX1, RBFOX3, RBM8A, RBPJ, RBSN, RECQL4, RELN, RET, RFT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, ROBO3, ROGDI, RPGRIP1L, RPIA, RPS6KA3, RRM2B, RTTN, RUBCN, RYR2, RYR3, SAMHD1, SASS6, SATB2, SC5D, SCARB2, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN7A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHD, SEPSECS, SERAC1, SERPINI1, SETBP1, SETD2, SETX, SFXN4, SGCE, SGSH, SHANK3, SHH, SHROOM4, SIK1, SIX3, SLC12A1, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC1A3, SLC20A2, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC2A1, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC39A4, SLC46A1, SLC4A10, SLC52A2, SLC52A3, SLC5A7, SLC6A1, SLC6A19, SLC6A3, SLC6A5, SLC6A8, SLC9A1, SLC9A6, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMPD1, SMS, SNAP25, SNAP29, SNIP1, SNRPN, SNX14, SOX10, SOX11, SOX2, SPG11, SPINK5, SPR, SPRED1, SPTAN1, SRD5A3, SRGAP2, SRPX2, SSR4, ST3GAL3, ST3GAL5, STAMBP, STAT1, STIL, STRADA, STS, STT3A, STT3B, STUB1, STX11, STX1B, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYP, SZT2, TACO1, TAF1, TAT, TBC1D20, TBC1D24, TBCE, TBX1, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TDP2, TECPR2, TFAP2A, TFG, TGDS, TGIF1, TH, THAP1, TIMM8A, TK2, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TMEM70, TMLHE, TNNT1, TOR1A, TPI1, TPK1, TPP1, TRAPPC11, TRAPPC9, TREX1, TRNT1, TRPM6, TRPV3, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TTC19, TTPA, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TUFM, TUSC3, TWIST1, TWNK, UBA1, UBB, UBE2A, UBE3A, UCHL1, UGT1A1, UPB1, UQCC2, UROC1, USP9X, VAPB, VARS2, VDAC1, VDR, VLDLR, VPS13B, VPS53, VRK1, WDR45, WDR62, WDR73, WDR81, WFS1, WWOX, XK, XPNPEP3, ZBTB18, ZBTB20, ZC4H2, ZDHHC15, ZDHHC9, ZEB2, ZIC2, ZNF423, ZSWIM6

    Fever Sensitive Seizures Spotlight Panel (13 genes)

This panels tests for genes known to be associated with febrile seizures, including generalized epilepsy with febrile seizures plus (GEFS+), familial febrile seizures, and other known epilepsies in which fever may precede a seizure.
Genes:
ADGRV1, CPA6, GABRD, GABRG2, GPR98, HCN2, MBD5, PCDH19, PRRT2, SCN1A, SCN1B, SCN2A, SCN9A

    Focal Seizures Spotlight Panel (15 genes)

This panel tests for genes associated with focal seizures, including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), malignant migrating partial seizures of infancy (MMPSI), and familial focal epilepsy with variable foci (FFEVF).
Genes:
CHRNA2, CHRNA4, CHRNB2, CNTNAP2, CPA6, DEPDC5, GRIN2A, KCNT1, LGI1, MTOR, RELN, RELN, SYN1, TSC1, TSC2

    Hereditary Hemochromatosis Spotlight Panel (5 genes)

This panel tests for disorders of iron homeostasis including Hereditary Hemochromatosis, Hemochromatosis types 2-4, and Porphyria Cutanea Tarda disorder.
Genes:
HAMP, HFE, HFE2, SLC40A1, TFR2

    Hereditary Spastic Paraplegia Spotlight Panel (58 genes)

This panel test for hereditary spastic paraplegia (HSP), a highly variable group of disorders characterized by muscle stiffness and weakness in the lower extremities. When impariment is limited to the lower extremities, it is considered uncomplicated or pure HSP. Complicated HSP can include the involement of upper extremities and/or other systemic or neurologic symptoms such as ataxia, seizures and developmental delays. Genes in this panel are associated with both complicated and uncomplicated HSP as well as select conditions that include spastic paraplegia as a common feature.
Genes:
ABCD1, ACOX1, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ATL1, B4GALNT1, BSCL2, C12orf65, C19orf12, CCT5, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, GBA2, HSPD1, IBA57, KDM5C, KIF1A, KIF1C, KIF5A, L1CAM, MAG, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, RTN2, SACS, SLC16A2, SLC33A1, SPAST, SPG11, SPG20, SPG21, SPG7, TECPR2, VAMP1, VPS37A, WASHC5, ZFYVE26, ZFYVE27

    Holopresencephaly Spotlight Panel (7 genes)

This panel tests for genetic causes of non-syndromic holoprosencephaly, which as a brain malformation in which the forebrain failed to develop into two separate hemispheres during embryonic development.
Genes:
CDON, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2

    Hyper-/Hypoglycemia/MODY Spotlight Panel (31 genes)

This panel tests for maturity-onset diabetes of the young (MODY), a rare, heritable subtype of diabetes that usually occurs in children or adolescents. The genes on this panel are associated with MODY, which is most often caused by a defect in the ability of the pancreas to produce insulin.
Genes:
ABCC8, APPL1, AQP2, AVP, AVPR2, BLK, DYRK1B, GCK, GLIS3, GLUD1, HAMP, HFE2, HNF1A, HNF1B, HNF4A, HTR1A, INS, INSR, KCNJ11, KLF11, NEUROD1, PAX4, PCBD1, PDX1, PLAGL1, PPARG, SLC19A2, SLC40A1, TFR2, WFS1, ZFP57

    Hyperparathyroidism Spotlight Panel (6 genes)

This panel tests for conditions associated with hyperparathyroidism which results in an imbalance of blood calcium levels due to increased production of parathyroid hormone.
Genes:
AIRE, CASR, CDC73, CDKN1B, MEN1, RET

    Hypogonadotropic Hypogonadism / Kallmann syndrome Spotlight Panel (11 genes)

This panel tests for genes associated isolated gonadotropin-releasing hormone deficiency (IGD), which is characterized by low serum levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) in combination with hypogonadism. IGD associated with an impaired sense of smell is known as Kallmann syndrome.
Genes:
ANOS1, CHD7, FGF8, FGFR1, GNRH1, GNRHR, KISS1R, PROK2, PROKR2, TAC3, TACR3

    Infantile Spasms Spotlight Panel (18 genes)

This panel tests for genes known to be associated with infantile spasms, including syndromes like tuberous sclerosis, Rett syndrome, cobalamin deficiency and periventricular heterotopia.
Genes:
ALG13, ARFGEF2, ARX, BUB1B, CDKL5, FOXG1, GABRA1, MAGI2, MECP2, MEF2C, MMACHC, PAFAH1B1, PDHA1, SCN2A, SCN8A, STXBP1, TSC1, TSC2

    Joubert Syndrome Spotlight Panel (10 genes)

This panel tests for genes associated with Joubert syndrome.
Genes:
AHI1, ARL13B, CC2D2A, CEP290, INPP5E, NPHP1, OFD1, RPGRIP1L, TMEM216, TMEM67

    Leigh Syndrome Spotlight Panel (30 genes)

This panel tests for genes associated with Leigh syndrome.
Genes:
BCS1L, C12orf65, COX10, COX15, FOXRED1, LRPPRC, MTFMT, NARS2, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, PDHA1, PDHB, PDSS2, SDHA, SERAC1, SLC19A3, SURF1, TACO1, TPK1, TSFM, TUFM

    Limb-Girdle Muscular Dystrophy Spotlight Panel (30 genes)

This panel tests for genes associated with limb-girdle muscular dystrophy. There are many genes that cause limb-girdle muscular dystrophy, but most genes cause progressive skeletal muscle weakness that may eventually lead to cardiac and respiratory problems.
Genes:
ANO5, CAPN3, CAV3, COL6A1, COL6A2, COL6A3, DAG1, DES, DNAJB6, DYSF, FHL1, FKRP, FKTN, GMPPB, HNRNPDL, ISPD, LIMS2, LMNA, MYOT, PLEC, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRIM32, TTN

    Lissencephaly Spotlight Panel (8 genes)

This next generation sequencing panel tests selected genes associated with lissencephaly, including muscle-eye-brain disease and Miller-Dieker lissencephaly syndrome.
Genes:
ARX, DCX, PAFAH1B1, POMT1, POMT2, RELN, TUBA1A, YWHAE

    lysoSEEK Lysosomal Storage Disorder Panel (94 genes)

This panel tests genes associated with potentially treatable lysosomal storage disorders to seek out enzymatic deficiencies in the lysosomes, as well as additional genes useful for differential diagnoses.
Genes:
AGA, ALDH7A1, AMT, ARSA, ARSB, ASAH1, ASPA, ATP13A2, ATP7A, ATP7B, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSF, CYP27A1, DBH, DDC, DHCR7, DNAJC5, FKRP, FKTN, FUCA1, GAA, GALC, GALNS, GCH1, GCSH, GFAP, GLA, GLB1, GLDC, GM2A, GNE, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HPRT1, HYAL1, IDS, IDUA, ISPD, KCTD7, L1CAM, LARGE1, LIPA, MAN2B1, MANBA, MAOA, MECP2, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PANK2, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PEX3, PEX5, PEX6, PHYH, PLP1, PNPO, POLG, POMGNT1, POMT1, POMT2, PPT1, PSAP, PTS, RPS6KA3, SGSH, SLC17A5, SMPD1, SPR, SUMF1, TH, TPP1

    Microcephaly Spotlight Panel (22 genes)

This next generation sequencing panel tests genes that are associated with congenital microcephaly and acquired microcephaly, including known genetic syndromes such as Smith-Lemli-Opitz syndrome, Rett syndrome and Rett-like syndromes, Cornelia deLange syndrome and others.
Genes:
ASPM, ATR, ATRX, CASK, CDK5RAP2, CDKL5, CENPJ, CEP152, DHCR7, FOXG1, MCPH1, MECP2, NIPBL, PCNT, RAB3GAP1, SLC25A19, SLC9A6, STIL, TCF4, UBE3A, WDR62, ZEB2

    Migraine Spotlight Panel (12 genes)

This panel tests for single gene etiologies of migraine, Genes on this panel are associated with familial hemiplegic migraine, CADASIL1, and other selected diagnoses that have migraine as a common feature.
Genes:
ATP1A2, ATP1A3, CACNA1A, CSNK1D, HTR1A, MR1, NOTCH3, POLG, PRRT2, SCN1A, SLC2A1, TREX1

    mtSEEK Mitochondrial Genome Panel (40 genes)

Courtagen’s mtSEEK® test uses Next Generation Sequencing to sequence the 16,569 bases that make up the 37 genes of the mitochondrial genome. The proprietary assay design provides contamination control, highly accurate mapping and sensitive detection of mtDNA heteroplasmy levels as low as 5%.
Genes:
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-COX1, MT-COX2, MT-COX3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, TRNA, TRNC, TRND, TRNE, TRNF, TRNG, TRNH, TRNI, TRNK, TRNL1, TRNL2, TRNM, TRNN, TRNP, TRNQ, TRNR, TRNS1, TRNS2, TRNT, TRNV, TRNW, TRNY

    Myoclonic A (Progressive) Spotlight Panel (21 genes)

This next generation sequencing panel includes genes associated with myoclonic epilepsies that are progressive and in which the patient has other significant symptoms. Disorders tested with this panel include neuronal ceroid lipofuscinoses, action myoclonus-renal failure syndrome and myoclonic epilepsy with ataxia.
Genes:
ASAH1, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, GOSR2, KCNC1, KCTD7, MFSD8, NHLRC1, NHLRC1, PPT1, PRICKLE1, SCARB2, SERPINI1, TTPA

    Myoclonic B Spotlight Panel (18 genes)

This next generation sequencing panel includes genes associated with myoclonic epilepsies. Disorders tested with this panel include cerebral folate transport deficiency, Dravet syndrome, pyruvate dehydrogenase lipoic acid synthetase deficiency, neuraminidase deficiency with beta-galactosidase deficiency and GLUT1 deficiency syndrome.
Genes:
BRD2, CACNA1A, CACNB4, CHD2, CLCN2, CNTN2, CTSA, EFHC1, EFHC2, FOLR1, GABRA1, GABRD, LIAS, SCN1A, SCN9A, SLC2A1, SYNGAP1, TBC1D24

    Myofibrillar Myopathy Spotlight Panel (8 genes)

This panel tests for genes associated with myofibrillar myopathy, which is a progressive muscle disease usually involving the skeletal muscles. The genes associated with myofibrillar myopathy contribute to the integrity of myofibrils and pathogenic variants in these genes lead to weakened muscle fibers.
Genes:
BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT

    Myopathy with Contractures Spotlight Panel (5 genes)

This panel tests for genes associated with myopathy with contractures, including Bethlem myopathy and Ullrich congenital muscular dystrophy. Most of the genes on this panel code for subunits of collagen VI, which is a complex protein that is critical to the normal structure and function of skeletal muscle and connective tissue.
Genes:
COL12A1, COL6A1, COL6A2, COL6A3, TOR1AIP1

    NCL / Battens Disease Spotlight Panel (13 genes)

This next generation sequencing panel tests all known genes associated with neuronal ceroid-lipofuscinoses (also known as Batten disease).
Genes:
CLN5, CLN6, CLN3, CTSD, PPT1, TPP1, CLN8, MFSD8, CTSF, DNAJC5, ATP13A2, GRN, KCTD7

    Neonatal Seizures Spotlight Panel (26 genes)

This next generation sequencing panel tests genes associated with neonatal onset seizures. Genes on this panel are associated with benign, lethal and other types of neonatal onset seizures, including early infantile epileptic encephalopathy (EIEE) and some inborn errors of metabolism.
Genes:
ALDH7A1, AMT, AMT, ARHGEF9, BRAT1, CPT2, FH, GCSH, GCSH, GLDC, GLDC, GLRA1, GLRB, GPHN, GPHN, KCNQ2, KCNQ3, PEX1, PEX10, PEX12, PEX26, PEX6, PHGDH, PNPO, SCN2A, SLC6A5

    Neuropathic Pain Spotlight Panel (10 genes)

This panel tests for single gene etiologies of neuropathic pain. Genes on this panel are associated with small fiber neuropathy, acute intermittent porphyria, familial episodic pain syndrome, erythromelalgia, paroxysmal extreme pain disorder and selected neuropathy genes.
Genes:
COX6A1, DYNC1H1, GLA, HMBS, MARS, NTRK1, SCN10A, SCN11A, SCN9A, TRPA1

    Noonan Syndrome / RASopathies Spotlight Panel (13 genes)

This panel tests for Noonan syndrome and RASopathies. Genes on this panel are associated with Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, Legius syndrome and Noonan syndrome with multiple lentigines.
Genes:
BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1

    nucSEEK Comprehensive Nuclear Mitochondrial Gene Panel (1189 genes)

This panel provides sequence analysis of the nuclear mitochondrial exome, testing a comprehensive set of genes associated with mitochondrial dysfunction and involved with protein production for mitichondrial function.
Genes:
AAAS, AADAT, AARS2, AASS, ABAT, ABCA9, ABCB10, ABCB6, ABCB7, ABCB8, ABCC12, ABCC8, ABCC9, ABCD1, ABCD2, ABCD3, ABCF2, ABHD10, ABHD11, ACAA1, ACAA2, ACACA, ACACB, ACAD10, ACAD11, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACHE, ACLY, ACO1, ACO2, ACOT13, ACOT2, ACOT7, ACOT9, ACOX3, ACP6, ACSF2, ACSF3, ACSL1, ACSL4, ACSL5, ACSL6, ACSM1, ACSM2A, ACSM3, ACSM4, ACSM5, ACSS1, ACYP2, ADCK1, ADCK2, ADCK5, ADHFE1, ADO, ADSL, AFG3L2, AGK, AGMAT, AGPAT5, AGPS, AGR2, AGXT, AGXT2, AHCY, AIFM1, AIFM2, AIFM3, AK2, AK3, AKAP1, AKAP10, AKAP4, AKR1B15, AKR7A2, AKT1, AKT2, ALAS1, ALAS2, ALDH18A1, ALDH1B1, ALDH1L1, ALDH1L2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDH9A1, ALKBH7, AMACR, AMT, ANK2, ANKRD26, APEX2, APOOL, APOPT1, APTX, ARG2, ARMC1, ARMC10, ARMC4, ARSA, AS3MT, ASAH2, ASS1, ATAD1, ATIC, ATP10D, ATP5A1, ATP5B, ATP5C1, ATP5D, ATP5E, ATP5F1, ATP5G1, ATP5G2, ATP5G3, ATP5H, ATP5I, ATP5J, ATP5J2, ATP5L, ATP5O, ATP5S, ATP5SL, ATP7B, ATP8B1, ATPAF1, ATPAF2, ATPIF1, ATXN7, AUH, AURKAIP1, BAD, BAK1, BAX, BBOX1, BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK, BCL2, BCL2L13, BCS1L, BDH1, BHMT, BID, BLOC1S1, BOLA1, BOLA3, BPHL, BTD, C10orf10, C12orf65, C14orf159, C14orf2, C15orf48, C19orf70, C1QBP, C20orf24, C21orf33, C6orf136, C6orf203, CA5A, CA5B, CACNA1A, CACNA1S, CACNA2D1, CARS2, CASP8, CBR4, CBS, CCDC136, CCDC51, CCDC58, CCDC90B, CCT7, CDC42BPA, CDC42BPB, CDC42BPG, CDKL5, CERK, CHAT, CHCHD1, CHCHD10, CHCHD2, CHCHD3, CHCHD4, CHCHD7, CHDH, CHRNA4, CHRNB2, CISD1, CISD2, CKB, CKM, CKMT1A, CKMT1B, CKMT2, CLCN1, CLCN2, CLCN5, CLCN7, CLCNKB, CLIC4, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CLPX, CLYBL, CMC1, CNR1, COA5, COA6, COMT, COMTD1, COQ10A, COQ10B, COQ2, COQ3, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX11, COX14, COX15, COX16, COX17, COX18, COX19, COX20, COX4I1, COX4I2, COX5A, COX5B, COX6A1, COX6A2, COX6B1, COX6B2, COX6C, COX7A1, COX7A2, COX7A2L, COX7B, COX7B2, COX7C, COX8A, COX8C, CPOX, CPS1, CPT1A, CPT1B, CPT1C, CPT2, CRAT, CRLS1, CROT, CRY1, CS, CTPS2, CTSD, CTU1, CYB5A, CYB5B, CYB5R1, CYB5R2, CYB5R3, CYBA, CYBB, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DACT2, DAP3, DARS2, DBT, DCAF5, DCAKD, DDAH1, DDC, DDX28, DECR1, DGUOK, DHODH, DHRS1, DHRS4, DHTKD1, DHX29, DIABLO, DISC1, DLAT, DLD, DLST, DMGDH, DMPK, DNAJA3, DNAJC11, DNAJC15, DNAJC19, DNAJC27, DNAJC30, DNAJC4, DNAJC5, DNM1L, DPYD, DRG2, DTNBP1, DUS2, DUSP16, DUSP26, DUT, E2F1, EARS2, ECH1, ECHDC3, ECHS1, ECI1, ECI2, EEFSEC, EFHD1, EHHADH, ELAC2, ELN, EMC2, ENDOG, ENO1, ENO3, ETFA, ETFB, ETFDH, ETFRF1, ETHE1, EXOG, FAAH, FAHD1, FAHD2A, FAM136A, FAM162A, FAM210A, FAM213A, FAM65C, FARS2, FASN, FASTK, FASTKD2, FBP1, FBXL4, FDPS, FDX1, FDX2, FDXR, FECH, FH, FIS1, FITM2, FKBP8, FMC1, FOLR1, FOXC1, FOXG1, FOXRED1, FPGS, FRMD3, FTH1, FTMT, FUNDC2, FXN, G6PC, G6PD, GAD1, GAD2, GADD45GIP1, GALC, GARS, GATB, GATC, GATM, GBAS, GCAT, GCDH, GCK, GCSH, GDAP1, GFER, GFM1, GFM2, GHITM, GIMAP5, GK, GK2, GLA, GLDC, GLO1, GLOD4, GLRA1, GLRX, GLRX2, GLRX5, GLS, GLS2, GLUD1, GLYAT, GLYCTK, GMPPB, GNAS, GNG5, GNPAT, GOT2, GPAM, GPD1, GPD2, GPI, GPT2, GPX1, GPX4, GRPEL1, GRPEL2, GRSF1, GSR, GSTK1, GTPBP10, GTPBP3, GTPBP8, GUF1, GYS1, GYS2, H6PD, HADH, HADHA, HADHB, HAGH, HAO2, HARS, HARS2, HCCS, HDDC2, HDHD5, HEMK1, HIBADH, HIBCH, HIGD1A, HIGD2A, HINT2, HK1, HK2, HK3, HLCS, HMGCL, HMGCS2, HOGA1, HPDL, HSCB, HSD17B10, HSD17B4, HSD17B8, HSD3B1, HSD3B2, HSDL1, HSDL2, HSPA9, HSPB7, HSPD1, HSPE1, IARS2, IBA57, IDH1, IDH2, IDH3A, IDH3B, IDH3G, IDI1, IMMP2L, IMMT, INSR, IQCE, IREB2, ISCA1, ISCA2, ISCU, ISOC2, IVD, KARS, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ11, KCNJ2, KCNQ1, KCNQ2, KCNQ3, KIAA0141, KIF1B, KRT5, KYAT3, KYNU, L2HGDH, LACE1, LACTB, LACTB2, LAMTOR5, LAP3, LARS, LARS2, LDHA, LDHAL6B, LDHB, LDHD, LETM1, LETMD1, LIAS, LIPT1, LIPT2, LONP1, LRPPRC, LRRK2, LYRM1, LYRM2, LYRM4, LYRM7, MAIP1, MAOA, MARC1, MARC2, MARS, MARS2, MAT2B, MAVS, MCAT, MCCC1, MCCC2, MCEE, MCU, MCUR1, MDH1, MDH2, ME1, ME2, ME3, MECP2, MECR, MED23, METAP1D, METTL17, MFN1, MFN2, MFSD8, MGLL, MGME1, MGST3, MICU1, MICU2, MIEF1, MINOS1, MIPEP, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOBP, MOCOS, MOCS1, MOCS2, MOCS3, MOGS, MPC1, MPC2, MPST, MPV17, MPV17L, MPV17L2, MRM1, MRM2, MRM3, MRPL1, MRPL10, MRPL11, MRPL12, MRPL13, MRPL14, MRPL15, MRPL16, MRPL17, MRPL18, MRPL19, MRPL2, MRPL20, MRPL21, MRPL22, MRPL23, MRPL24, MRPL27, MRPL28, MRPL3, MRPL30, MRPL32, MRPL33, MRPL34, MRPL35, MRPL36, MRPL37, MRPL38, MRPL39, MRPL4, MRPL40, MRPL41, MRPL42, MRPL43, MRPL44, MRPL45, MRPL46, MRPL47, MRPL48, MRPL49, MRPL50, MRPL51, MRPL52, MRPL53, MRPL54, MRPL55, MRPL57, MRPL58, MRPL9, MRPS10, MRPS11, MRPS12, MRPS14, MRPS15, MRPS16, MRPS17, MRPS18A, MRPS18B, MRPS18C, MRPS2, MRPS21, MRPS22, MRPS23, MRPS24, MRPS25, MRPS26, MRPS27, MRPS28, MRPS30, MRPS31, MRPS33, MRPS34, MRPS35, MRPS36, MRPS5, MRPS7, MRPS9, MRRF, MRS2, MSRA, MSRB2, MTCH1, MTCH2, MTCP1, MTERF1, MTERF2, MTERF3, MTFMT, MTFP1, MTFR1, MTG1, MTG2, MTHFD1, MTHFD1L, MTHFD2, MTHFD2L, MTHFR, MTHFS, MTIF2, MTIF3, MTO1, MTPAP, MTRF1, MTRF1L, MTRR, MTX1, MTX2, MUL1, MUT, MYL10, NAGS, NARS, NARS2, NAXD, NAXE, NCOA4, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA3, NDUFA4, NDUFA5, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAB1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFAF8, NDUFB1, NDUFB10, NDUFB11, NDUFB2, NDUFB3, NDUFB4, NDUFB5, NDUFB6, NDUFB7, NDUFB8, NDUFB9, NDUFC1, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEU4, NFS1, NFU1, NFXL1, NIF3L1, NIPSNAP1, NIPSNAP3A, NIPSNAP3B, NIT1, NLN, NLRX1, NME1, NME2, NME3, NME4, NME6, NNT, NOA1, NOS3, NPL, NRDC, NRF1, NRXN1, NT5C, NT5C3A, NT5DC3, NT5M, NTHL1, NUBPL, NUDT13, NUDT19, NUDT2, NUDT8, OAT, OCIAD1, OGDH, OGDHL, OGG1, OMA1, OPA1, OPA3, OSGEPL1, OTC, OXA1L, OXCT1, OXCT2, OXLD1, OXNAD1, OXR1, OXSM, PACRG, PAH, PAK5, PAM16, PANK2, PARK2, PARL, PARP1, PARS2, PC, PCBD1, PCBD2, PCCA, PCCB, PCK1, PCK2, PDE12, PDHA1, PDHA2, PDHB, PDHX, PDK1, PDK2, PDK3, PDK4, PDP1, PDP2, PDPR, PDSS1, PDSS2, PDX1, PEX1, PEX10, PEX11A, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX5L, PEX6, PEX7, PFKL, PGAM2, PGK1, PGS1, PHB, PHB2, PHYH, PHYHIPL, PHYKPL, PIGY, PINK1, PISD, PITRM1, PKLR, PLA2G15, PLGRKT, PMPCA, PMPCB, PNKD, PNMT, PNPT1, POLG, POLG2, POLRMT, PPA2, PPARGC1A, PPARGC1B, PPIF, PPM1B, PPM1K, PPOX, PPT1, PPTC7, PRDX1, PRDX2, PRDX3, PRDX5, PRDX6, PRELID1, PRELID2, PRELID3A, PRELID3B, PREPL, PRICKLE4, PRKAA2, PRKAB1, PRKAB2, PRODH, PRODH2, PROSC, PRR5L, PRSS35, PSTK, PTCD2, PTCD3, PTGES2, PTGR2, PTPMT1, PTRH1, PTRH2, PTS, PUS1, PXMP2, PYCR1, QDPR, QRSL1, RAB11A, RAB11B, RAB11FIP5, RAB1B, RAB24, RAB32, RAB35, RAB3D, RAB40AL, RAB4B, RAB8B, RARS, RARS2, RCC1L, RDH13, RDH14, REEP1, REXO2, RFK, RHOA, RHOT1, RHOT2, RIDA, RILP, RMDN1, RMDN2, RMDN3, RMND1, RNASEH1, ROMO1, RPL10A, RPL34, RPL35A, RPS14, RPS15A, RPUSD4, RRM2B, RSAD1, RSPH9, RTN4IP1, RYR1, RYR2, SACS, SAMM50, SARDH, SARS, SARS2, SCCPDH, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF3, SDHAF4, SDHB, SDHD, SDSL, SECISBP2, SERAC1, SERHL2, SFXN1, SFXN2, SFXN3, SFXN4, SFXN5, SHMT1, SHMT2, SIRT1, SIRT2, SIRT3, SIRT5, SLC16A1, SLC19A2, SLC19A3, SLC22A4, SLC22A5, SLC25A1, SLC25A10, SLC25A11, SLC25A12, SLC25A13, SLC25A14, SLC25A15, SLC25A16, SLC25A17, SLC25A18, SLC25A19, SLC25A2, SLC25A20, SLC25A21, SLC25A22, SLC25A23, SLC25A24, SLC25A25, SLC25A26, SLC25A27, SLC25A28, SLC25A29, SLC25A3, SLC25A30, SLC25A31, SLC25A32, SLC25A33, SLC25A34, SLC25A35, SLC25A36, SLC25A37, SLC25A38, SLC25A39, SLC25A4, SLC25A40, SLC25A41, SLC25A42, SLC25A43, SLC25A44, SLC25A45, SLC25A46, SLC25A47, SLC25A48, SLC25A5, SLC25A51, SLC25A6, SLC27A4, SLC2A1, SLC30A6, SLC35G2, SLC37A4, SLC3A1, SLC6A8, SLIRP, SMDT1, SND1, SNPH, SOD2, SPAST, SPG20, SPG7, SPR, SPRYD4, SPTLC2, SQRDL, SSBP1, STAR, STOML2, SUCLA2, SUCLG1, SUCLG2, SUGCT, SUOX, SUPV3L1, SURF1, TACO1, TAMM41, TAP1, TARS2, TAT, TATDN3, TAZ, TBRG4, TCAIM, TCIRG1, TDP1, TDRKH, TFAM, TFB1M, TFB2M, THEM4, THEM5, THG1L, TIMM10, TIMM10B, TIMM13, TIMM17A, TIMM17B, TIMM21, TIMM22, TIMM23, TIMM44, TIMM50, TIMM8A, TIMM8B, TIMM9, TIMMDC1, TK2, TMEM11, TMEM126A, TMEM143, TMEM14C, TMEM160, TMEM186, TMEM223, TMEM65, TMEM70, TMTC1, TOMM20, TOMM22, TOMM34, TOMM40, TOMM40L, TOMM5, TOMM7, TOMM70, TOP1MT, TPH2, TPI1, TPK1, TPP1, TRAP1, TRIAP1, TRIT1, TRMT10C, TRMT2B, TRMU, TRNT1, TSFM, TSHZ3, TSPO, TST, TTC19, TUFM, TWNK, TXN, TXN2, TXNRD1, TXNRD2, TYMP, UBE3A, UCP1, UCP2, UCP3, UNG, UQCC1, UQCC2, UQCR10, UQCR11, UQCRB, UQCRC1, UQCRC2, UQCRFS1, UQCRH, UQCRQ, UROS, USMG5, UXS1, VAMP1, VAMP8, VARS2, VAT1, VDAC1, VDAC2, VDAC3, VDR, WARS2, WFS1, WWOX, XPNPEP3, YARS2, YBEY, YME1L1, ZADH2

    nucSEEK Focus Nuclear Mitochondrial Gene Panel (181 genes)

This panel provides sequence analysis of nuclear genes associated with mitochondrial dysfunction.
Genes:
AARS2, ABAT, ABCB7, ACACA, ACAD9, ACADL, ACADM, ACADVL, ACAT1, ACO2, AFG3L2, AGK, AIFM1, ALAS2, ALDH1B1, APTX, ATP5A1, ATP5E, ATPAF2, AUH, BCS1L, BOLA3, BTD, C12orf65, CISD2, CLPB, COA5, COQ2, COQ6, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6B1, CPS1, CPT1A, CPT2, DARS2, DGUOK, DLAT, DLD, DNAJC19, DNM1L, EARS2, ECHS1, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FH, FOXRED1, G6PC, GFER, GFM1, GFM2, GTPBP3, GYS1, GYS2, HADHA, HADHB, HARS2, HIBCH, HLCS, HSPD1, IARS2, ISCU, IVD, KARS, LARS, LARS2, LIAS, LRPPRC, MARS2, MCCC1, MCCC2, MFN2, MGME1, MMAA, MMAB, MMACHC, MMADHC, MPC1, MPV17, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, MTRR, MUT, NAGS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, OPA3, OTC, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PGAM2, PNPT1, POLG, POLG2, PUS1, RARS2, REEP1, RMND1, RRM2B, SARS2, SCO1, SCO2, SDHAF1, SERAC1, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A3, SLC25A4, SLC37A4, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TAZ, TIMM8A, TK2, TMEM126A, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TYMP, UQCRB, UQCRQ, WFS1, YARS2

    Osteogenesis Imperfecta Spotlight Panel (12 genes)

This panel tests for Osteogenesis Imperfecta, a group of inherited disorders characterized by multiple fractures with minimal to no trauma. Clinical presentation can range from mild with relatively few fractures and a normal lifespan to severe including skeletal deformities and pre- and perinatal fractures.
Genes:
BMP1, COL1A1, COL1A2, CRTAP, FKBP10, IFITM5, P3H1, PPIB, SERPINF1, SERPINH1, SPARC, WNT1

    Periodic Fever Syndromes Spotlight Panel (11 genes)

This panel tests for periodic fever syndromes and genetic autoinflammatory disorders. Genes on this panel are associated with familial Mediterranean fever, familial Hibernian fever, hyper IgD syndrome, neutropenias, and familial cold autoinflammatory syndromes.
Genes:
ELANE, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSTPIP1, SLC29A3, TNFRSF1A

    Periodic Paralysis Spotlight Panel (6 genes)

This panel tests for periodic paralyses, a group of disorders associated with episodes of extreme muscle weakness or paralysis. Genes on this panel are associated with hyper- and hypo- kalemic periodic paralysis, thyrotoxic periodic paralysis, Andersen cardiodysrhythmic periodic paralysis and other selected genes.
Genes:
CACNA1S, KCNE3, KCNJ18, KCNJ2, SCN4A, SLC12A3

    Pituitary Hormone Deficiency Spotlight Panel (5 genes)

This panel tests for combined pituitary hormone deficiency (CPHD), a group of disorders caused by reduced levels of hormones produced by the pituitary gland.
Genes:
HESX1, LHX3, LHX4, POU1F1, PROP1

    Porphyria Spotlight Panel (10 genes)

This panel tests for porphyria, a group of enzyme deficiencies that cause porphyrins to build up in the blood. Treatment is specific to the type of porphyria, and may be guided by results of genetic testing.
Genes:
ALAD, ALAS2, CPOX, FECH, GATA1, HFE, HMBS, PPOX, UROD, UROS

    Rhabdomyolysis Spotlight Panel (39 genes)

This panel tests for rhabdomyolysis due to hereditary muscle conditions and metabolic disease. While rhabdomyolysis usually has a non-genetic etiology, it may also be caused by a primary muscle disease or primary metabolic disorder. Genes on this panel are associated with muscular dystrophies, myopathies, channelopathies, abnormal glycogen metabolism, fatty acid oxidation defects, and other metabolic and neuromuscular disorders known to be associated with rhabdomyolysis.
Genes:
ACADM, ACADS, ACADVL, ALDOA, AMPD1, ANO5, CACNA1S, CAV3, CHKB, CLCN1, CPT2, DGUOK, DMD, DNM2, DYSF, ENO3, ETFA, ETFB, ETFDH, FKRP, GAA, HADHA, HADHB, ISCU, LAMP2, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PYGM, RYR1, SCN4A, SEPT9, SLC25A20, TANGO2, TTN, TTR

    rxSEEK Epilepsy Drug Metabolism Report (9 genes)

This panel tests an individual’s ability to metabolize the 26 currently available anti-epileptic drugs (AEDs) based on the haplotype sequence of certain liver enzymes involved in drug and chemical metabolism.
Genes:
CYP1A2, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, MTHFR, OPRM1

    Short Stature Spotlight Panel (10 genes)

This panel tests for syndromic conditions that are also associated with short stature. Genes on this panel are associated with Cornelia de Lange syndrome, Noonan syndrome, and Rubinstein-Taybi syndrome.
Genes:
CREBBP, DHCR7, EP300, FGD1, KRAS, NIPBL, PTPN11, RAF1, SMC1A, SOS1

    theraSEEK Functional Disorder Panel (298 genes)

This panel tests genes associated with metabolism, physiological function, and neurologic development are factors in functional symptoms and disease. The test also includes a SNP analysis for common variants associated with biochemical pathways.
Genes:
AAAS, AASS, ABAT, ABCD1, ACAD9, ACADM, ACADVL, ACAT1, ACHE, ACSF3, AGK, AGXT, AHCY, AK2, AKR7A2, ALDH1L1, ALDH1L2, ALDH3A2, ALDH5A1, AMACR, ANK2, APTX, ARG1, ARSA, ASL, ASS1, ATP5C1, ATP5G3, ATP7A, ATP8B1, BCKDHA, BCKDHB, BCS1L, BDNF, BHMT, BTD, C12orf65, CACNA1A, CACNA1S, CBS, CHAT, CHCHD10, CHD7, CHRNA4, CHRNB2, CISD2, CLCN5, CLCN7, CLCNKB, CLN3, CLN6, COMT, COMTD1, COQ10B, COQ2, COQ3, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ9, COX5A, COX6C, CPOX, CPS1, CPT1A, CPT2, CYBA, CYBB, CYC1, CYP27A1, CYP27B1, DBH, DBT, DDAH1, DDC, DGUOK, DHCR7, DHFR, DHTKD1, DLAT, DMD, DMGDH, DNAJC5, DPAGT1, DPYD, ELN, ETFA, ETFB, ETFDH, ETHE1, FKRP, FLNA, FMR1, FOLR1, FOLR2, FOXRED1, FPGS, FTCD, G6PC, G6PD, GABRB3, GAD2, GALC, GAMT, GARS, GATM, GCDH, GCH1, GDAP1, GIF, GK, GLA, GLRA1, GLRX, GLRX2, GLRX5, GMPPB, GNAS, GNE, GPI, GPX1, GSR, GSTK1, HCFC1, HEXB, HK1, HK3, HPRT1, HTR2A, IDH2, IDS, ISCU, IVD, KCNA1, KCNJ2, KIF1A, KIF1B, LDHA, LETM1, LIPA, LYRM7, MAOA, MAOB, MARS, MCCC1, MCCC2, MECP2, MFN2, MGME1, MLYCD, MMAA, MMAB, MPI, MPV17, MSRA, MSRB2, MTHFD1, MTHFD1L, MTHFD2L, MTHFR, MTHFS, MTR, MTRR, MUT, NAGA, NAGLU, NAGS, NDUFA1, NDUFA11, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NLN, NLRX1, NOS3, NRXN1, NT5C, NUBPL, OAT, OTC, OXR1, PAH, PAK3, PANK2, PARK2, PARK7, PCCA, PCCB, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PEX1, PEX10, PEX12, PEX26, PEX6, PEX7, PGAM2, PGK1, PGM1, PHYH, PINK1, PKLR, PLGRKT, PMM2, PNKD, PNKP, PNMT, POLG, POLG2, POMGNT1, PPM1K, PPOX, PPT1, PRDX1, PRDX2, PRDX3, PRDX5, PRDX6, PRPS1, PTCHD1, PTS, QDPR, REEP1, RRM2B, RYR1, RYR2, SCN1A, SCN2A, SCN4A, SCN5A, SDHA, SHANK3, SHMT1, SHMT2, SIRT1, SLC16A1, SLC19A1, SLC22A5, SLC25A15, SLC25A22, SLC25A32, SLC25A4, SLC2A1, SLC46A1, SLC6A3, SLC6A4, SLC6A8, SOD1, SOD2, SPAST, SPR, SPRED1, SPTLC2, SUGCT, SUOX, SYNGAP1, TAZ, TBX1, TH, TK2, TMLHE, TPH1, TPH2, TPK1, TRAP1, TSC1, TSC2, TTC19, TWNK, TYMP, UQCC2, UQCRB, UQCRC2, UQCRQ, VDR, WFS1

    Treatable Seizures Spotlight Panel (51 genes)

This next generation sequencing panel tests genes that have been associated with seizures and have treatments or important surveillance recommendations. Genes associated with biotinidase deficiency, cerebral creatine deficiency syndrome, Dravet syndrome, folate malabsorption, hyperphenylalanemia and other heritable disorders with seizures that have strong management implications are included in the analysis.
Genes:
ALDH7A1, AMT, ARG1, ARHGEF9, BTD, CACNA1A, CHRNA2, CHRNA4, CHRNB2, CPT2, CSTB, DLD, DPYD, EPM2A, FOLR1, GAMT, GATM, GCSH, GLDC, GLRA1, GLRB, GLUD1, HPD, KCNQ2, KCNQ3, KCNT1, MOCS1, NHLRC1, NPC1, NPC2, PDHA1, PDHX, PHGDH, PIK3CA, PIK3R2, PNPO, POLG, PSAT1, QDPR, SCN1A, SCN2A, SCN8A, SLC19A3, SLC25A15, SLC2A1, SLC46A1, SLC6A5, SLC6A8, TRPM6, TSC1, TSC2

    Tuberous Sclerosis Complex Spotlight Panel (2 genes)

This panel tests for tuberous sclerosis complex (TSC), which is a highly variable neurocutaneous syndrome. Genes on this panel are associated with the two TSC subtypes (TSC1 and TSC2).
Genes:
TSC1, TSC2

    Urea Cycle Spotlight Panel (6 genes)

This panel sequences genes associated with urea cycle disorders. Genes causing deficiencies of carbamoyl phosphate synthetase I, ornathine transcarbamylase, argininosuccinic aciduria, arginase and N-acetylglutamate synthase are included in the analysis.
Genes:
CPS1, OTC, ASS1, ASL, ARG1, NAGS

    Vanishing White Matter Spotlight Panel (5 genes)

This panel tests for leukoencephalopathy with vanishing white matter (VWM). The genes associated with this disorder code for subunits of the eukaryotic translation initiation factor, eIF2B, and account for the molecular subtypes of VWM.
Genes:
EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5

    Zellweger Syndrome Spotlight Panel (12 genes)

This panel tests for Zellweger syndrome, adrenoleukodystrophies and other disorders of peroxisome biogenesis. This panel sequences the PEX genes that are known to cause this group of disorders.
Genes:
PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26