Brachyolmia type 3
GTR Test Accession: Help GTR000322876.4
INHERITED DISEASEDYSMORPHOLOGYMUSCULOSKELETAL ... View more
Last updated in GTR: 2018-02-09
Last annual review date for the lab: 2024-02-15 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Brachyrachia (short spine dysplasia)
Genes (1): Help
TRPV4 (12q24.11)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Patients exhibiting a short trunk, scoliosis/severe kyphoscoliosis, and mild short …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
TRPV4
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
Susan Kirwin, Lab Associate Director
skirwin@nemours.org
302-651-6775
Contact Policy: Help
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: Help
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 …
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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:
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
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical utility: Help
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: Help
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:
Technical Information
Test Procedure: Help
PCR of all exons, and exon-intron boundaries, followed with bi-directional sequencing, and analysis of any nucleotide changes
Test Comments: Help
Partial sequencing available upon request
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% accurate for detection of a mutation in TRPV4 gene sequencing
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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