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Mucolipidosis-II/III screening
Clinical Genetic Test
Help
offered by
Institute of Human Genetics
View lab's test page
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GTR Test Accession: Help GTR000556390.2
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2017-08-12
View version history
Last annual review date for the lab: 2024-09-30 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (2): Help
Pseudo-Hurler polydystrophy; Sialidosis type 2
Analytes (1): Help
Mucopolysaccharides, Oligosaccharides, Arylsulfatase A, B-Hexosaminidase A, Mucopolysaccharides, Oligosaccharides, Arylsulfatase A, b-Hexosaminidase A, b-Glucuronidase
Methods (1): Help
Biochemical Genetics - Analyte: Metabolite levels
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
ML-II/III screening
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Isolated DNA
  • Plasma
  • Product of conception (POC)
  • Serum
  • 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
  • Registered Nurse
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 but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Decline to answer
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: 2
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Analyte
Metabolite levels
PerkinElmer LS-55 Fluorescence Spectrometers
Clinical Information
Test purpose: Help
Screening
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Sheth J, Mistri M, Kamate M, Vaja S, Sheth FJ. Diagnostic strategy for mucolipidosis II/III. Indian Pediatr. 2012;49(12):975-7. doi:10.1007/s13312-012-0247-6. Epub 2012 Jun 10. PMID: 22728628.

Target population: Help
Universal
View citations (1)
  • Sheth J, Mistri M, Kamate M, Vaja S, Sheth FJ. Diagnostic strategy for mucolipidosis II/III. Indian Pediatr. 2012;49(12):975-7. doi:10.1007/s13312-012-0247-6. Epub 2012 Jun 10. PMID: 22728628.
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
Test Procedure: Help
Screening
View citations (1)
  • Sheth J, Mistri M, Kamate M, Vaja S, Sheth FJ. Diagnostic strategy for mucolipidosis II/III. Indian Pediatr. 2012;49(12):975-7. doi:10.1007/s13312-012-0247-6. Epub 2012 Jun 10. PMID: 22728628.
Test Platform:
None/not applicable
Test Confirmation: Help
Using different method
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test is greater than 98% sensitive and specific
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No

Method used for proficiency testing: Help
Inter-Laboratory
Recommended fields not provided:
Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, 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.