GTR Test Accession:
Help
GTR000569289.1
NYS CLEP
Registered in GTR:
2019-10-22
View version history
GTR000569289.1,
registered in GTR:
2019-10-22
Last annual review date for the lab: 2023-12-27
LinkOut
At a Glance
Test purpose:
Help
Screening
Conditions (2):
Help
Mucolipidosis type II;
Pseudo-Hurler polydystrophy
Genes (1):
Help
GNPTAB (12q23.2)
Methods (1):
Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Adult patients of reproductive age
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Specimen Source:
Help
- Saliva
- Peripheral (whole) blood
- Isolated DNA
Contact Policy:
Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Informed consent required:
Help
Decline to answer
Pre-test genetic counseling required:
Help
Decline to answer
Post-test genetic counseling required:
Help
Decline to answer
Recommended fields not provided:
Test Order Code,
How to Order,
Lab contact for this test,
Test strategy,
Test development
Conditions
Help
Total conditions: 2
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
---|
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Screening
Target population:
Help
Adult patients of reproductive age
Recommended fields not provided:
Clinical validity,
Clinical utility,
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
Entire test performed in-house
Analytical Validity:
Help
>99% sensitivity and specificity for single nucleotide variants and small (<5 bp) insertions and deletions. >75% sensitivity and >99% specificity for large deletions.
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
No
No
Recommended fields not provided:
Test Confirmation,
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
Not provided
NYS CLEP Approval:
Help
Number:
8535
Status: Approved
Status: Approved
Additional Information
Clinical resources:
Molecular resources:
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.