Inheritest High Frequency panel
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000604211.1
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2023-03-19
Last annual review date for the lab: 2024-01-10 LinkOut
At a Glance
Screening
Hereditary pulmonary alveolar proteinosis; Achondrogenesis, type IB; Achromatopsia; ...
ABCA3 (16p13.3), ABCC8 (11p15.1), ABCD1 (Xq28), ACADM (1p31.1), ACADVL (17p13.1), ...
Molecular Genetics - Deletion/duplication analysis: RT-qPCR; ...
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Ordering Information
Offered by: Help
Integrated Genetics Westborough
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Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
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Post-test genetic counseling required: Help
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Conditions Help
Total conditions: 109
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 110
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
RT-qPCR
Mutation scanning of select exons
PCR
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
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Technical Information
Test Comments: Help
Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs).
For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0). SMN2 copy number analysis is automatically performed when 0 copies of … View more
For premutation carriers with 55-90 CGG repeats, reflex AGG analysis will be automatically performed and reported with the Fragile X results.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity is estimated to be >99% for single nucleotide variants, >99% for insertions/deletions less than six base pairs and >98% for insertions/deletions between six and fifteen base pairs. SMN1: This test is greater than 99% sensitive for detecting the targeted mutation(s) specified. FMR1: The analytical sensitivity of this assay … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
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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.