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Carrier Screening Guidelines-Based Panel
Clinical Genetic Test
Help
offered by
Ambry Genetics
GTR Test Accession: Help GTR000597637.3
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2024-03-20
View version history
Last annual review date for the lab: 2024-03-22 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (199): Help
Hereditary disease; 3-methylcrotonyl-CoA carboxylase 1 deficiency; 3-methylcrotonyl-CoA carboxylase 2 deficiency more...
Genes (164): Help
ABCB11 (2q31.1); ABCC6 (16p13.11); ABCC8 (11p15.1); ABCD1 (Xq28); ACADM (1p31.1) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Individuals family planning/currently pregnant
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Ambry Genetics
View lab's website
Specimen Source: Help
  • Peripheral (whole) blood
  • Saliva
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
9085-A
How to Order: Help
Order URL
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:
Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 199
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 164
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
Screening
Target population: Help
Individuals family planning/currently pregnant
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Interpretation performed at an outside lab
Report generated in-house
Specimen preparation performed at an outside lab
Wet lab work performed at an outside lab

Test performance comments
.
Analytical Validity: Help
This test is designed and validated to be capable of detecting >99% of described mutations in the gene(s) represented.
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
Category: FDA exercises enforcement discretion
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.