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Prenatal Known Familial Mutation
Clinical Genetic Test
Help
offered by
GeneDx
View lab's test page
LinkOut
GTR Test Accession: Help GTR000586830.1
INHERITED DISEASE
Last updated in GTR: 2020-05-20
View version history
Last annual review date for the lab: 2024-03-25 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Hereditary disease
Genes (1716): Help
AAAS (12q13.13), AAGAB (15q23), AARS1 (16q22.1), AARS2 (6p21.1), ABCA12 (2q35), ...
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Test Order Code: Help
902
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom mutation-specific/Carrier testing
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:
How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1716
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, 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
Capillary sequencing is expected to be >99% sensitive in detecting sequencing variants. Copy number analysis for known familial del/dup variants is highly sensitive, especially if prior testing for the familial variant has been performed previously at our laboratory. Specificity for exon-level arrayCGH is >99.9% and the analytical sensitivity ranges from … View more
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
Additional Information
Practice guidelines:
Consumer resources:

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.