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Results: 1 to 20 of 46 (representing 19 labs)

Tests names and labsConditionsGenes and analytesMethods

Comprehensive pulmonary disease panel

Centogene AG - the Rare Disease Company
Germany
5766
  • D Deletion/duplication analysis
  • 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

Dyskeratosis congenita, X-linked

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

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

DKC1. Complete sequencing

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

X-chromosome High Resolution microarray analysis

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

Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel

PreventionGenetics
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dyskeratosis Congenita (DC) and Hoyeraal-Hreidarsson Syndrome via the DKC1 Gene

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

DKC1-Related Dyskeratosis Congenita

Ambry Genetics
United States
11
  • C Sequence analysis of the entire coding region

X-Linked Congenital Dyskeratosis, Sequencing DKC1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Syndromic Combined Immunodeficiency (CID) Panel

Invitae
United States
5637
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

DYSKERATOSIS CONGENITA (X-LINKED)

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
5964
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Pulmonary-Vascular Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
5964
  • D Deletion/duplication analysis

Comprehensive Pulmonary-Vascular Seq Analysis

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
6065
  • C Sequence analysis of the entire coding region

Neonatal Respiratory Distress Seq Analysis

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1616
  • C Sequence analysis of the entire coding region

Neonatal Respiratory Distress Seq + Del/ Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1616
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neonatal Respiratory Distress Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1616
  • D Deletion/duplication analysis

Results: 1 to 20 of 46

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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