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Expanded Carrier Screening
Clinical Genetic Test
Help
offered by
Genome-Nilou Lab
GTR Test Accession: Help GTR000591289.3
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2020-08-25
View version history
Last annual review date for the lab: 2024-08-09 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (110): Help
Abetalipoproteinaemia; 3 beta-Hydroxysteroid dehydrogenase deficiency; 3-Methylglutaconic aciduria more...
Genes (146): Help
ABCC8 (11p15.1); ABCD1 (Xq28); ACADM (1p31.1); ACADVL (17p13.1); ACAT1 (11q22.3) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Couples with consanguinity
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genome-Nilou Lab
View lab's website
Test short name: Help
ECS-150
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
http://genome.niloulab.com/
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Test service: Help
Genetic counseling
Test additional service: Help
Custom mutation-specific/Carrier testing
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
How to Order, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 110
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 146
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Ion Proton
Clinical Information
Test purpose: Help
Screening
Target population: Help
Couples with consanguinity
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
According to ACMG guidelines

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Test Confirmation: Help
Sanger Sequencing
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity is estimated to be >97% for single nucleotide variants and small insertions/deletions (<5bp)
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
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

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.