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Cartilage-Hair Hypoplasia
Clinical Genetic Test
Help
offered by
Myriad Genetics, Inc.
GTR Test Accession: Help GTR000569333.1
NYS CLEP
IMMUNOLOGYINHERITED DISEASECONNECTIVE TISSUE ... View more
Registered in GTR: 2019-10-22
View version history
Last annual review date for the lab: 2023-12-27 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (1): Help
Metaphyseal chondrodysplasia, McKusick type
Genes (1): Help
RMRP (9p13.3)
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
Myriad Genetics, Inc.
View lab's website
Specimen Source: Help
  • Peripheral (whole) blood
  • Isolated DNA
  • Saliva
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: 1
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
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
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
Additional Information

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