Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000558343.2
INHERITED DISEASEMETABOLIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2017-11-03
Last annual review date for the lab: 2020-12-01 Past due LinkOut
At a Glance
Diagnosis
Cardiomyopathy; 3-methylglutaconic aciduria type 5; Alstrom syndrome; ...
A2ML1 (12p13.31), ABCC9 (12p12.1), ACADVL (17p13.1), ACTC1 (15q14), ACTN2 (1q43), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
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Ordering Information
Offered by: Help
Phosphorus Diagnostics LLC
View lab's website
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: 9
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 77
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The same sample set of four 1000 Genome reference samples was used to evaluate the analytical sensitivity and specificity. The analytical sensitivity and specificity was 98.86% and 99.97%, respectively_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F
This study yielded 98.86 % accuracy for 56 analyzed genes in 4 samples across all batches, samples and replicates of the reference … 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

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