Short Stature NGS Panel
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000510913.10
INHERITED DISEASEMUSCULOSKELETALSYNDROMIC DISEASE ... View more
Last updated in GTR: 2019-03-20
Last annual review date for the lab: 2023-08-22 LinkOut
At a Glance
Mutation Confirmation; Diagnosis
Rubinstein-Taybi syndrome; Aarskog syndrome; Breast neoplasm; ...
CREBBP (16p13.3), DHCR7 (11q13.4), EP300 (22q13.2), FGD1 (Xp11.22), KRAS (12p12.1), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
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Ordering Information
Offered by: Help
Specimen Source: Help
  • Fibroblasts
  • Cell culture
  • Fresh tissue
  • Peripheral (whole) blood
  • Isolated DNA
  • Fetal blood
  • Buccal swab
  • Saliva
  • Frozen tissue
  • Cord blood
  • View specimen requirements
Who can order: Help
  • Health Care Provider
  • Genetic Counselor
  • Licensed Physician
Test Order Code: Help
FT-TP00224
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
Test development: Help
Test developed by laboratory (no manufacturer test name)
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: 24
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 11
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Mutation Confirmation; Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity, specificity and accuracy are >98%, 96% and 97% respectively.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
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.