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Hypophosphatasia and Hypophosphatemic Rickets Panel
Clinical Genetic Test
Help
offered by
MNG Laboratories (Medical Neurogenetics, LLC.)
View lab's test page
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GTR Test Accession: Help GTR000592308.1
INHERITED DISEASEMUSCULOSKELETALENDOCRINOLOGY ... View more
Registered in GTR: 2020-12-17
View version history
Last annual review date for the lab: 2024-08-09 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (11): Help
Vitamin D-dependent rickets type II with alopecia; Adult hypophosphatasia; Childhood hypophosphatasia more...
Genes (10): Help
ALPL (1p36.12); CLCN5 (Xp11.23); CYP27B1 (12q14.1); CYP2R1 (11p15.2); DMP1 (4q22.1) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: 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
MNG Laboratories (Medical Neurogenetics, LLC.)
View lab's website
View lab's test page
Test short name: Help
HPP/Hypophosphatemia Panel
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
Test Order Code: Help
630292
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, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 11
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 10
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
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, 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
Greater than 99% sensitivity and specificity based on CAP proficiency testing
Assay limitations: Help
This assay will not consistently detect germline mosaicism below 50% or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. The assay does not detect repeat expansions. Possible intergenic variant interactions are not commented on. False positive or … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Citations to support 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
Category: Not Applicable
Additional Information

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