lysoSEEK® Sequence Analysis for Lysosomal Storage Disorders

Next Generation Sequencing test focused on early identification of genes associated with potentially treatable storage disorders

Lysosomal 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
Developmental Delay
Corneal Clouding
Developmental Regression
Oral Findings (E.G. Macroglossia, Molas Hypoplasia, Hypertrophic Gums)
Stiff Joints
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
AspartylglucosaminuriaMucopolysaccharidoses I-H, S &HS, II, III-A-D, IV-A, VI, VII, IX
Brunner Syndrome
Multiple Sulfatase Deficiency
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
Refsum Disease
Schindler Disease; Kanzaki Disease
GM1 GangliosidosisSialic 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 DiseaseWolman Disease
Metachromatic LeukodystophyZellweger, 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

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.

Click here to order a test