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Results: 1 to 20 of 96

Tests names and labsConditionsGenes and analytesMethods

Zellweger syndrome panel

Centogene AG - the Rare Disease Company
Germany
112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DonorReady Customized Carrier Screen (Select from 204 Genes)

EVOLVEGENE EvolveGene
United States
326204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FamilyReady Carrier Screen (204 Genes)

EVOLVEGENE EvolveGene
United States
327204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Refsum disease panel

Centogene AG - the Rare Disease Company
Germany
15
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Zellweger syndrome

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

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection

PreventionGenetics
United States
141154
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection

PreventionGenetics
United States
300280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection

PreventionGenetics
United States
3840
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Peroxisomal Disorders Sequencing Panel

PreventionGenetics
United States
3222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Zelweger Spectrum Disorder and Beta-Oxidation Defect NGS Panel

Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
716
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX1 Gene

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

PEX1. Complete sequencing

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

PEX1. Sequencing of the exons 13, 15, 18 and 19

Instituto de Medicina Genomica
Spain
11
  • E Sequence analysis of select exons

OtoSCOPE

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
181153
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hearing Loss Advanced Sequencing and CNV Evaluation

Athena Diagnostics Inc
United States
251184
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 96

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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