Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis
GTR Test Accession: Help GTR000560383.1
Last updated in GTR: 2018-03-21
Last annual review date for the lab: 2023-12-05 LinkOut
At a Glance
Risk Assessment; Diagnosis; Mutation Confirmation
Hereditary disease
ABCC8 (11p15.1), ACADM (1p31.1), ACADS (12q24.31), ACADVL (17p13.1), ACAT1 (11q22.3), ...
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
This is a comprehensive carrier screen of 135 genes associated …
Not provided
Not provided
Ordering Information
Offered by: Help
CEN4GEN Institute for Genomics and Molecular Diagnostics
View lab's website
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
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
Informed consent required: Help
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
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
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
Risk Assessment; Diagnosis; Mutation Confirmation
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:
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
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information
Practice guidelines:
Consumer resources:

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