GeneSeq: Cardio - Familial Cardiomyopathy Panel
Clinical Genetic Test
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GTR Test Accession: Help GTR000604229.2
INHERITED DISEASEMUSCULOSKELETALCARDIOVASCULAR ... View more
Last updated in GTR: 2023-09-24
Last annual review date for the lab: 2024-01-10 LinkOut
At a Glance
Diagnosis
Congenital disorder of glycosylation; Alstrom syndrome; Apolipoprotein A-I deficiency; ...
ABCC9 (12p12.1), ACTC1 (15q14), ACTN2 (1q43), ALMS1 (2p13.1), ALPK3 (15q25.3), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
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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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Recommended fields not provided:
Conditions Help
Total conditions: 17
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 67
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)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
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Technical Information
Test Comments: Help
Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions and deletions. Copy number variants (CNVs) are assessed and reported for the DMD gene only. TTN excludes exons 154 and 155.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity at 30X coverage is estimated to be >99% for single nucleotide variants, >99% for insertions/deletions less than six base pairs and >96% for insertions/deletions between six and forty-five base pairs.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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