GTR Test Accession:
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GTR000322876.4
Last updated in GTR:
2018-02-09
View version history
GTR000322876.4,
last updated:
2018-02-09
GTR000322876.3,
last updated:
2017-02-25
GTR000322876.2,
last updated:
2015-02-27
GTR000322876.1,
registered in GTR:
2014-03-01
Last annual review date for the lab: 2024-02-15
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (1):
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Brachyrachia (short spine dysplasia)
Genes (1):
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TRPV4 (12q24.11)
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Patients exhibiting a short trunk, scoliosis/severe kyphoscoliosis, and mild short …
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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Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
Who can order: Help
- Health Care Provider
- Licensed Physician
Test Order Code:
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TRPV4
CPT codes:
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Lab contact:
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Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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Specimen requirements: One tube of 3-5cc blood in an EDTA (purple top) tube. Patient samples should be shipped via overnight delivery at room temperature, or with a cold pack. Each specimen should be labeled with the patient’s name, date of birth, and date of sample collection. No weekend or holiday …
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test strategy,
Test development
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500 capillary sequencing instrument
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Clinical utility:
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Establish or confirm diagnosis
View citations (1)
- Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008;40(8):999-1003. doi:10.1038/ng.166. Epub 2008 Jun 29. PMID: 18587396.
Target population:
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Patients exhibiting a short trunk, scoliosis/severe kyphoscoliosis, and mild short stature
View citations (1)
- Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008;40(8):999-1003. doi:10.1038/ng.166. Epub 2008 Jun 29. PMID: 18587396.
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:
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PCR of all exons, and exon-intron boundaries, followed with bi-directional sequencing, and analysis of any nucleotide changes
Test Comments:
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Partial sequencing available upon request
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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99% accurate for detection of a mutation in TRPV4 gene sequencing
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
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:
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Not provided
Additional Information
Clinical resources:
Molecular resources:
Consumer 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.