Genomic Unity® Custom Analysis
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000593286.4
INHERITED DISEASE
Last updated in GTR: 2022-02-06
Last annual review date for the lab: 2024-01-30 LinkOut
At a Glance
Diagnosis
Hereditary disease
A2M (12p13.31), A2ML1 (12p13.31), A4GALT (22q13.2), AAAS (12q13.13), AAGAB (15q23), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
Not provided
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Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
Lab contact: Help
Christine Stanley, PhD, FACMG, Medical Director
christine.stanley@variantyx.com
+1 617-209-2090
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
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 4054
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Mutation scanning of select exons
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
Diagnosis
Recommended fields not provided:
Technical Information
Test Procedure: Help
The patient's DNA is sequenced using whole genome sequencing conducted on an Illumina platform using the Illumina TruSeq DNA PCR-Free Library Preparation Kit at 30X mean mappable coverage. The relevant region(s) of DNA are subsequently isolated in-silico for analysis.
Test Confirmation: Help
Tandem repeat expansions are sent out to a third party CLIA/CAP lab for orthogonal confirmation.
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed at an outside lab
Wet lab work performed at an outside lab

Test performance comments
Whole genome sequencing was performed on the proband using the Illumina TruSeq DNA PCR-Free kit followed by next generation sequencing (NGS) by Psomagen Inc., 1330 Piccard Drive, STE 103, Rockville, MD 20850, CLIA# 21D2062464
Analytical Validity: Help
The Genomic Unity® Custom Analysis is a clinical diagnostic genetic test designed to identify pathogenic variants in a custom set of genes. The genetic changes identified in the test include small sequence changes (single nucleotide variants and deletions/insertions), characterized intronic variants, structural variants in chromosomes (deletions, duplications, copy number changes, … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
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.