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MRPL44 Comprehensive - Sequence & Deletion/Duplication Analysis
Clinical Genetic Test
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offered by
Baylor Genetics
View lab's test page
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GTR Test Accession: Help GTR000570591.1
INHERITED DISEASEMITOCHONDRIAL DISEASEDYSMORPHOLOGY ... View more
Registered in GTR: 2020-01-31
View version history
Last annual review date for the lab: 2023-07-21 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Genes (1): Help
MRPL44 (2q36.1)
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: 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
Baylor Genetics
View lab's website
View lab's test page
Test Order Code: Help
2294
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:
How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
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 select exons
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
This test has more than 99% analytical sensitivity for detecting substitution variants and small indels in the target region.
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

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