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Results: 1 to 20 of 25 (representing 12 labs)

Tests names and labsConditionsGenes and analytesMethods

Diabetes mellitus type 1

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

Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome via the FOXP3 Gene

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

MitoMet®Plus aCGH Analysis

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

Invitae Primary Immunodeficiency Panel

Invitae
United States
282207
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Monogenic Inflammatory Bowel Disease Panel

Invitae
United States
8746
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Monogenic Autoimmunity Panel

Invitae
United States
10973
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Immune Dysregulation Disorders Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
3223
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal Glucose/MODY Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
4931
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HNF1A Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
41
  • C Sequence analysis of the entire coding region

Familial Hyperinsulinism NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
2610
  • C Sequence analysis of the entire coding region

KCTD1

Fulgent Genetics
United States
481
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cancer Panel

Fulgent Genetics
United States
1736124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diabetes mellitus, neonatal permanent

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1917
  • C Sequence analysis of the entire coding region

X-linked immune dysregulation - polyendocrinopathy - enteropathy

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

PTPN22

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

OAS1

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

ITPR3

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

HNF1A

Fulgent Genetics
United States
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FOXP3

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Maturity Onset Diabetes of the Young (MODY): Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
124
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 25

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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