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Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel
Clinical Genetic Test
Help
offered by
Phosphorus Diagnostics LLC
GTR Test Accession: Help GTR000558337.3
INHERITED DISEASEMETABOLIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2018-09-12
View version history
Last annual review date for the lab: 2020-12-01 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (9): Help
Cardiomyopathy; 3-methylglutaconic aciduria type 5; Alstrom syndrome; ...
Genes (77): Help
A2ML1 (12p13.31), ABCC9 (12p12.1), ACADVL (17p13.1), ACTC1 (15q14), ACTN2 (1q43), ...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
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
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
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:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
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
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
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information
Consumer resources:

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