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Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis
Clinical Genetic Test
Help
offered by
CEN4GEN Institute for Genomics and Molecular Diagnostics
GTR Test Accession: Help GTR000560383.2
INHERITED DISEASE
Last updated in GTR: 2024-10-03
View version history
Last annual review date for the lab: 2023-12-05 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Conditions (1): Help
Hereditary disease
Genes (136): Help
ABCC8 (11p15.1); ACADM (1p31.1); ACADS (12q24.31); ACADVL (17p13.1); ACAT1 (11q22.3) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
This is a comprehensive carrier screen of 135 genes associated …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
CEN4GEN Institute for Genomics and Molecular Diagnostics
View lab's website
Specimen Source: Help
  • Dried blood spot (DBS) card
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
Who can order: Help
  • Health Care Provider
Test Order Code: Help
3644
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
Order URL
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 136
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
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Target population: Help
This is a comprehensive carrier screen of 135 genes associated with autosomal recessive conditions very common in the population, and by full gene sequencing. Many of these common genetic disorders are associated with shortened lifespan or the need for continued medical interventions. This carrier test also screens for the SMN1 … View more
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, 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
The analytical validity for this analysis is 99%.
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: Not Applicable
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.