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Results: 21 to 40 of 68

Tests names and labsConditionsGenes, analytes, and microbesMethods

Lesch-Nyhan syndrome, 300322, X-linked recessive; LNS (Lesch-Nyhan syndrome) (Prenatal) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

Invitae
United States
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
526339
  • C Sequence analysis of the entire coding region

HPRT1 - Lesch–Nyhan syndrome

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
21
  • C Sequence analysis of the entire coding region

Invitae Purine Metabolism Disorders Panel

Invitae
United States
2618
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia Exome

Genetic Services Laboratory University of Chicago
United States
93170
  • C Sequence analysis of the entire coding region

Nephrolithiasis and Nephrocalcinosis Panel

PreventionGenetics
United States
3330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-Linked Intellectual Disability Panel

PreventionGenetics
United States
191141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lesch-Nyhan Syndrome, HPRT-Related Hyperuricemia and Gout via the HPRT1 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

HPRT1. Complete sequencing

IGENOMIX
Spain
11
  • C Sequence analysis of the entire coding region

HPRT Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
21
  • T Targeted variant analysis

HPRT Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
21
  • T Targeted variant analysis

HPRT Sequence Analysis

Baylor Genetics
United States
21
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
240171
  • D Deletion/duplication analysis

Purine Panel - Urine

Baylor Genetics
United States
78
  • A Analyte

Hypoxanthine-Guanine Phosphoribosyltransferase Enzyme Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • E Enzyme assay

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes)

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
4160
  • C Sequence analysis of the entire coding region

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
377317
  • C Sequence analysis of the entire coding region

Nephrolithiasis panel. 35-gene NGS panel.

Genologica Medica
Spain
6035
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 68

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.