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Results: 1 to 20 of 50 (representing 30 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7851205
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Lesch-Nyham syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HPRT1 Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
11
  • C Sequence analysis of the entire coding region

Dystonia Exome Panel

Genetic Services Laboratory University of Chicago
United States
92170
  • C Sequence analysis of the entire coding region

ExomePLUS Electrolyte & Kidney Stone

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
4649
  • C Sequence analysis of the entire coding region

Nephrolithiasis and Nephrocalcinosis Sequencing 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 Sequencing Panel

PreventionGenetics
United States
8081
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lesch-Nyhan syndrome

Ambry Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Neurogenetics Panel (359 genes)

Sherbrooke Genomic Medicine
Canada
6035
  • C Sequence analysis of the entire coding region

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

Lesch Nyhan Syndrome

Human Genetics University Hospital Bern
Switzerland
11
  • C Sequence analysis of the entire coding region

HPRT1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

HPRT Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
21
  • T Targeted variant analysis

HPRT Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories
United States
21
  • T Targeted variant analysis

HPRT Sequence Analysis

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

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Results: 1 to 20 of 50

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.

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