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Results: 1 to 20 of 41

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cone-rod dystrophy type 17

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

New Born testing (CentoICU)

Centogene AG - the Rare Disease Company
Germany
766514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
767514
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency Panel

Mayo Clinic Laboratories Mayo Clinic
United States
6163
  • C Sequence analysis of the entire coding region

Inflammatory Bowel Disease Primary Immunodeficiency Panel

Mayo Clinic Laboratories Mayo Clinic
United States
6051
  • C Sequence analysis of the entire coding region

Invitae Congenital Diarrhea Panel

Invitae
United States
12183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Immunodeficiency 17, CD3 gamma deficient, 615607, Autosomal recessive; IMD17 (Combined immunodeficiency due to CD3gamma deficiency) (CD3G gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Immunodeficiency 17, CD3 gamma deficient, 615607, Autosomal recessive; IMD17 (Combined immunodeficiency due to CD3gamma deficiency) (CD3G gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Invitae
United States
217153
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Monogenic Inflammatory Bowel Disease Panel

Invitae
United States
10666
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel

Invitae
United States
173127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
530404
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary Immunodeficiency (WES based NGS panel of 334 genes, including CNV analysis)

CGC Genetics
Portugal
1334
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency

Asper Biogene Asper Biogene LLC
Estonia
6143
  • C Sequence analysis of the entire coding region

Inheritest®500 PLUS with Repro Partners Report

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
26522
  • T Targeted variant analysis

Genomic Unity Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Digestive Disease panel

Genetic Services Laboratory University of Chicago
United States
168
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Infantile enterocolitis and inflammatory bowel disease monogenic (NGS panel WES based of 65 genes, including CNV analysis)

CGC Genetics
Portugal
11365
  • C Sequence analysis of the entire coding region

Immunodeficiencies affecting cellular and humoral immunity (WES based NGS panel of 52 genes, including CNV analysis)

CGC Genetics
Portugal
6152
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 41

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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