GTR Test Accession:
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GTR000556520.1
Last updated in GTR: 2017-08-11
View version history
GTR000556520.1, last updated: 2017-08-11
Last annual review date for the lab: 2024-09-30
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At a Glance
Test purpose:
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Diagnosis
Conditions (24):
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Enzymes (18):
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Alpha-galactosidase;
Beta-galactosidase;
Beta-glucocerebrosidase;
Beta-hexosaminidase subunit alpha;
Beta-hexosaminidase subunit beta
more...
Proteins (4):
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Glycogen debranching enzyme;
Heparan Sulphamidase;
N-Neuraminidase;
Plasma alpha-L-fucosidase
Methods (1):
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Biochemical Genetics - Enzyme assay: Fluorometry
Target population: Help
Universal
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Test short name:
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LSD by enzyme study from AF and CVS
Specimen Source:
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- Amniocytes
- Amniotic fluid
- Bone marrow
- Cell culture
- Chorionic villi
- Cord blood
- Fetal blood
- Fibroblasts
- Fresh tissue
- Isolated DNA
- Peripheral (whole) blood
- Plasma
- Product of conception (POC)
- Serum
- Urine
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- In-State Patients
- Licensed Physician
- Out-of-State Patients
- Physician Assistant
- Public Health Mandate
Contact Policy:
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Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
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Kindly contact us for a prior collection of any specimen or you can visit our website.
Order URL
Order URL
Test service:
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Genetic counseling
Result interpretation
Result interpretation
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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Yes
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 24
Condition/Phenotype | Identifier |
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Test Targets
Enzymes
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Total enzymes: 18
Enzyme | Associated Condition |
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Proteins
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Total proteins: 4
Protein | Associated Condition |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Enzyme assay
Fluorometry
PerkinElmer LS-55 Fluorescence Spectrometers
Clinical Information
Test purpose:
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Diagnosis
Clinical utility:
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Target population:
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Universal
View citations (10)
- Glycogen storage disease type III diagnosis and management guidelines. Kishnani PS, et al. Genet Med. 2010;12(7):446-63. doi:10.1097/GIM.0b013e3181e655b6. PMID: 20631546.
- Sheth J, Mistri M, Sheth F, Shah R, Bavdekar A, Godbole K, Nanavaty N, Datar C, Kamate M, Oza N, Ankleshwaria C, Mehta S, Jackson M. Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. JIMD Rep. 2014;12:51-63. doi:10.1007/8904_2013_244. Epub 2013 Jul 13. PMID: 23852624.
- Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease. Ankleshwaria C, et al. J Hum Genet. 2015;60(5):285. doi:10.1038/jhg.2015.27. PMID: 26008600.
- Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center. Sheth J, et al. Indian Pediatr. 2015;52(12):1029-33. doi:10.1007/s13312-015-0768-x. PMID: 26713986.
- Sheth J, Datar C, Mistri M, Bhavsar R, Sheth F, Shah K. GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review. BMC Pediatr. 2016;16:88. doi:10.1186/s12887-016-0626-6. Epub 2016 Jul 11. PMID: 27402091.
- Sheth J, Mistri M, Datar C, Kalane U, Patil S, Kamate M, Shah H, Nampoothiri S, Gupta S, Sheth F. Expanding the spectrum of . Mol Genet Metab Rep. 2014;1:425-430. doi:10.1016/j.ymgmr.2014.09.004. Epub 2014 Sep 29. PMID: 27896118.
- Espejo LM, de la Espriella R, Hernández JF. [Metachromatic Leukodystrophy. Case Presentation]. Rev Colomb Psiquiatr. 2017;46(1):44-49. doi:10.1016/j.rcp.2016.05.001. Epub 2016 Jun 16. PMID: 28193373.
- Prenatal Diagnosis of Lysosomal Storage Disorders Using Chorionic Villi. Verma J, et al. Methods Mol Biol. 2017;1594:265-291. doi:10.1007/978-1-4939-6934-0_18. PMID: 28456990.
- Beta-mannosidosis in two brothers with hearing loss. Dorland L, et al. J Inherit Metab Dis. 1988;11 Suppl 2:255-8. doi:10.1007/BF01804251. PMID: 3141715.
- Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings. Tondeur M, et al. Eur J Pediatr. 1982;139(2):142-7. doi:10.1007/BF00441499. PMID: 7151835.
Recommended fields not provided:
Clinical validity,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The enzyme activity is greater than 98% sensitive
Assay limitations:
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The enzyme activity is greater than 98% sensitive
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
PT Provider: Help
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS
Yes
Method used for proficiency testing: Help
Inter-Laboratory
PT Provider: Help
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
Not Applicable
Additional Information
Reviews:
Clinical resources:
Molecular resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.