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Lysosomal storage disorder by enzyme study from amniotic fluid and … see more Lysosomal storage disorder by enzyme study from amniotic fluid and CVS  see less
Clinical Genetic Test
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Institute of Human Genetics
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GTR Test Accession: Help GTR000556520.1
METABOLIC DISEASEINHERITED DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2017-08-11
View version history
Last annual review date for the lab: 2023-10-05 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (24): Help
Neuronal ceroid lipofuscinosis 1; Deficiency of alpha-mannosidase; Fabry disease; ...
Enzymes (19): Help
Alpha-N-acetylgalactosaminidase; Alpha-galactosidase; Beta-galactosidase; Beta-glucocerebrosidase; Beta-hexosaminidase subunit alpha; ...
Proteins (4): Help
Glycogen debranching enzyme; Heparan Sulphamidase; N-Neuraminidase; Plasma alpha-L-fucosidase
Methods (1): Help
Biochemical Genetics - Enzyme assay: Fluorometry
Target population: Help
Universal
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Institute of Human Genetics
View lab's website
View lab's test page
Test short name: Help
LSD by enzyme study from AF and CVS
Specimen Source: Help
  • 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: Help
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.
How to Order: Help
Kindly contact us for a prior collection of any specimen or you can visit our website.
Order URL
Test service: Help
Genetic counseling
Result interpretation
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 24
Condition/Phenotype Identifier
Test Targets
Enzymes Help
Total enzymes: 19
Enzyme Associated Condition
Proteins Help
Total proteins: 4
Protein Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Enzyme assay
Fluorometry
PerkinElmer LS-55 Fluorescence Spectrometers
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
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: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The enzyme activity is greater than 98% sensitive
Assay limitations: Help
The enzyme activity is greater than 98% sensitive
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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: Help
Category: Not Applicable
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.