Classic view of this page
Carrier Screening - Comprehensive Panel (145 Genes)
Clinical Genetic Test
Help
offered by
Genesys Diagnostics
View lab's test page
LinkOut
GTR Test Accession: Help GTR000607972.1
CAP
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Registered in GTR: 2023-08-15
View version history
Last annual review date for the lab: 2024-07-05 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Conditions (185): Help
Cystic fibrosis; 46,XY sex reversal 2; Achondrogenesis, type IB more...
Genes (145): Help
ABCA3 (16p13.3); ABCC8 (11p15.1); ABCD1 (Xq28); ACADM (1p31.1); ACADS (12q24.31) more...
Methods (5): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); PCR; ...
Target population: Help
Patients who are considering reproduction (carrier screening), have a family …
Clinical validity: Help
Not provided
Clinical utility: Help
Reproductive decision-making
Ordering Information
Offered by: Help
Genesys Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
  • Buccal swab
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
  • Nurse Practitioner
Test Order Code: Help
CSCP
Informed consent required: Help
Yes
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, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 185
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 145
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 5
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Deletion/duplication analysis
PCR
Microsatellite instability testing (MSI)
Trinucleotide repeat by PCR or Southern Blot
Mutation scanning of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Clinical utility: Help
Reproductive decision-making
View citations (1)
  • Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS, . Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(10):1793-1806. doi:10.1038/s41436-021-01203-z. Epub 2021 Jul 20. PMID: 34285390.

Target population: Help
Patients who are considering reproduction (carrier screening), have a family history of a disorder that may be implicated by a gene contained within this panel, have a personal history of a disorder that may be implicated by a gene contained within this panel, have a known familial variant in a … View more
Recommended fields not provided:
Clinical validity, 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 GDI Comprehensive Carrier Screening Panel uses a combination of NGS, MLPA, and PCR techniques to screen 145 genes and includes all Tier 1, Tier 2, and Tier 3 genes recommended by the ACMG for carrier screening. This offering was designed and validated by Genesys Diagnostics with the following metrics. … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP

CAP Testing Information (legacy) Help
CAP/ACMG Hemoglobinopathies Genotyping; Alpha-thalassemia; HGM
CAP/ACMG Molecular Genetics Series; Cystic fibrosis (CFTR gene); MGL2
CAP/ACMG Molecular Genetics Series; DMD/Becker (DMD gene); MGL2
CAP/ACMG Molecular Genetics Series; Fragile X (FMR1 gene); MGL1
CAP/ACMG Molecular Genetics Series; Spinal muscular atrophy (SMN1 and SMN2 genes); MGL2
Next-Generation Sequencing-Germline; Next-generation sequencing; NGS
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method
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.