Inheritest 500 PLUS Panel
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000604232.1
Last updated in GTR: 2023-03-19
Last annual review date for the lab: 2024-01-10 LinkOut
At a Glance
Methylcrotonyl-CoA carboxylase deficiency; 3-M syndrome; 3-Methylglutaconic aciduria type 2; ...
AAAS (12q13.13), ABCA12 (2q35), ABCA3 (16p13.3), ABCB11 (2q31.1), ABCB4 (7q21.12), ...
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
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Pre-test genetic counseling required: Help
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Post-test genetic counseling required: Help
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Conditions Help
Total conditions: 287
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 578
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Sequence analysis of select exons
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
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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 individuals with two copies of the SMN1 gene, testing for the presence or absence of the variant c.*3+80T>G will be performed to help evaluate the risk of being a silent carrier (2+0). SMN2 copy number analysis is automatically performed when 0 copies of SMN1 are detected
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
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Regulatory Approval
FDA Review: Help
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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.