Classic view of this page
HPRT1 Gene Sequencing
Clinical Genetic Test
Help
offered by
GENETIX Centro de Investigación en Genética Humana y Reproductiva
View lab's test page
LinkOut
GTR Test Accession: Help GTR000332453.2
INHERITED DISEASEMETABOLIC DISEASESYNDROMIC DISEASE ... View more
Last updated in GTR: 2013-12-01
View version history
Last annual review date for the lab: 2020-05-12 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Lesch-Nyhan syndrome
Genes (1): Help
HPRT1 (Xq26.2-26.3)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Patients diagnosed with Lesch-Nyhan Syndrome
Clinical validity: Help
Use of internal controls to validate the test.
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
GENETIX Centro de Investigación en Genética Humana y Reproductiva
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Fibroblasts
  • Fresh tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Registered Nurse
Test Order Code: Help
XXPEND
View other test codes
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Sent requisition form and informed consent.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Test strategy: Help
PCR and bidirectional sequencing
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test
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 the entire coding region
Bi-directional Sanger Sequence Analysis
ABI3700XL
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
Use of internal controls to validate the test.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Patients diagnosed with Lesch-Nyhan Syndrome
View citations (1)
  • Fu R, Jinnah HA. Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene. J Biol Chem. 2012;287(5):2997-3008. doi:10.1074/jbc.M111.317701. Epub 2011 Dec 07. PMID: 22157001.
Recommended fields not provided:
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
Test Procedure: Help
PCR and bidirectional sequencing
Test Platform:
None/not applicable
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
>90%-95% of analytical validity.
View citations (2)
Assay limitations: Help
Deletions or duplications are not detected.
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, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.