Single gene testing NKX2-5
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000524475.1
INHERITED DISEASECARDIOVASCULARDYSMORPHOLOGY ... View more
Last updated in GTR: 2015-07-06
Last annual review date for the lab: 2023-06-06 LinkOut
At a Glance
Diagnosis
Atrial septal defect 7; Conotruncal heart malformations; Hypoplastic left heart syndrome 2; ...
Genes (1): Help
NKX2-5 (5q35.1)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
Not provided
Ordering Information
Test Order Code: Help
NKX2-5
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: 6
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
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The PCR and sequencing primers for each single gene test are established and validated on 3 independent control samples. For each patient sample we perform a technical validation using the JSI SeqPilot program which is used to visualize and assess sequence quality on the one hand and to calculate peak … View more
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.