lysoSEEK® Sequence Analysis for Lysosomal Storage Disorders
Next Generation Sequencing test focused on early identification of genes associated with potentially treatable storage disordersLysosomal storage disorders are part of the differential diagnosis of several, diverse perinatal and childhood phenotypes, which are extremely variable in both onset and clinical severity. Prompt diagnosis (within the first year), including genetic testing, may enable early treatment (e.g. enzyme replacement therapy), possibly preventing irreversible clinical consequences.
Courtagen’s lysoSEEK® panel provides extensive genetic analysis and clinical interpretation of data generated by the complete sequencing of 94 genes associated with close to 60 metabolic disorders. The test seeks out enzymatic deficiencies in the lysosomes, and looks at additional genes useful for differential diagnoses.
Indications for Testing
| Failure to Thrive ||Hepatosplenomegaly|
|Developmental Delay||Corneal Clouding|
|Developmental Regression||Oral Findings (E.G. Macroglossia, Molas Hypoplasia, Hypertrophic Gums)|
|Recurrent Respiratory Infections||Dysotosis Multiplex|
|Endocrine Dysfunction||Skeletal Abnormalities|
|Facial Dysmorphishm||Exaggerated Startle|
|Cardiovascular Abnormalities ||Other Indications|
RARECast: New Diagnostic Offers Fast Answers For Group of Rare Diseases
Click Here to Listen to Dr. Rick Boles talk about lysosmal storage disorders in this informative podcast.
Disorders included in this Next Generation Sequencing Panel:
| Aromatic L-Amino AcidDecarboxylase Deficiency|| Mucolipidoses II & III|
|Aspartylglucosaminuria||Mucopolysaccharidoses I-H, S &HS, II, III-A-D, IV-A, VI, VII, IX|
|Brunner Syndrome||Multiple Sulfatase Deficiency|
|Cystinosis||Neuronal Ceroid Lipofuscinosis 1-14 (CLN 1-14)|
|Dopa-Responsive Dystonia||Niemann-Pick Disease Types A, B, & C|
|Dopamine Beta-Hydroxylase Deficiency||Non-Ketotic Hyperglycinemia|
|Fabry Disease ||Pompe Disease|
|Farber Lipogranulomatosis||Peroxisome Biogenesis Disorders 2-4, 7, 8-B|
|Galactosialidosis||Schindler Disease; Kanzaki Disease|
|GM1 Gangliosidosis||Sialic Acide Storage Disease; Salla Disease|
|GM2 Gangliosidosis Type AB ||Sialidosis|
|GM2 Gangliosidosis Type B (Tay-Sachs Disease)||Sialuria|
|GM2 Gangliosidosis Type O (Sandhoff Disease)||Tetrahydrobiopterin Deficiency|
|Krabbe Disease ||Walker-Warburg Syndrome|
|Mannosidosis (α & β)||Wilson Disease|
|Menke Disease||Wolman Disease|
|Metachromatic Leukodystophy||Zellweger, Peroxisome Biogenesis Disorder 1, 4, 6, 10-13-A|
Disorders Included to Aid in Differential Diagnosis
| Alexander Disease|| Limb-Girdle Muscular Dystrophy|
|Alper's Disease||Pantothenat Kinase-Associated Neurodegeneration|
|Canavan Disease||Peilzaeus-Merzbacher Disease|
|Cerebrotendinous Xanthomatosis||Pyridoxin (Pyridoxal) Dependent Seizures|
|Coffin-Lawry Syndrome||Rett Syndrome|
|L1 Syndrome||Smith-Lemli-Optiz Syndrome|
Product Information Sheets:lysoSEEK® Sequence Analysis for Lysosomal Storage Disorders
lysoSEEK® Addendeum: Gene List
Courtagen's Unmatched Customer Support
Turn Around Time: 4-6 weeks. Results are delivered in weeks, not months.
Saliva Sample: DNA for sequencing is reliably extracted from a single saliva sample. No blood draw or muscle biopsy required. (Whole blood and tissue are accepted, as requested.)
Insurance Assistance: Courtagen works with patients, physicians, and insurance carriers to pre-approve each test. Courtagen will bill the insurance company, and is willing to handle an appeal process as needed.
Courtagen Care Financial Assistance Program: Provides financial assistance to patients based on demonstrated financial need. A qualified applicant may be asked to contribute between $0 and a maximum cost sharing of $200 depending on determination of financial need.
Online Portal: A secure physician online portal is available for ordering genetic tests and accessing patient reports when completed.
Genetic Counselors: Available to address physician’s questions regarding Courtagen test results. Contact us at email@example.com.
Clinical Experience: Courtagen’s Medical Director, Laboratory Director, and variant science team have over 25 years of experience in the treatment and genetic interpretation of neurological disorders.
Reports: Utilizing Courtagen’s customized Ziphyr® informatics pipeline and thorough clinical evaluation, each report is provided in a concise format with interpretation and recommendations for consideration.