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Results: 1 to 19 of 19

Tests names and labsConditionsGenes, analytes, and microbesMethods

FIG4 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Invitae Limb and Digital Malformations Panel

Invitae
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Brain Malformations Panel

Invitae
United States
247161
  • D Deletion/duplication analysis

Non-Immune Hydrops Fetalis Panel

PreventionGenetics
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel

PreventionGenetics
United States
4840
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amyotrophic Lateral Sclerosis (ALS) Panel

PreventionGenetics
United States
3633
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lysosomal Storage Disorders Panel

PreventionGenetics
United States
242146
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

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

Hypospadias Panel

PreventionGenetics
United States
15673
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Neuropathies Panel

Invitae
United States
20196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Charcot-Marie Tooth Disease Comprehensive Panel

Invitae
United States
12352
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Paroxysmal Extreme Pain Disorder NGS Panel

Fulgent Genetics
United States
18553
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FIG4 Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Charcot Marie Tooth Disease Extended NGS Panel

Fulgent Genetics
United States
17259
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Hereditary Motor Neuropathy NGS Panel

Fulgent Genetics
United States
3815
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Amyotrophic Lateral Sclerosis NGS Panel

Fulgent Genetics
United States
8443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.