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Results: 1 to 20 of 33

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

Tempus xO assay

Tempus Labs, Inc.
United States
11714
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Comprehensive pulmonary disease panel

Centogene AG - the Rare Disease Company
Germany
5766
  • -- Deletion/duplication analysis
  • -- Sequence analysis of the entire coding region

AllNeuro panel

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

Genecept Assay™

Genomind Genomind, Inc
United States
1318
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Central hypoventilation syndrome, congenital

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

PulmoGene Panel (64 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
6964
  • -- Deletion/duplication analysis
  • -- Sequence analysis of the entire coding region

Central Hypoventilation Syndrome Panel (6 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
16
  • -- Deletion/duplication analysis
  • -- Sequence analysis of the entire coding region

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection

PreventionGenetics
United States
90110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Central Hypoventilation Syndrome (CCHS) via BDNF Gene Sequencing with CNV Detection

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel with CNV Detection

PreventionGenetics
United States
37
  • -- Deletion/duplication analysis
  • -- Sequence analysis of the entire coding region
  • -- Targeted variant analysis

Syndromic Hirschsprung Disease: gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
128
  • C Sequence analysis of the entire coding region

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes

Reference Laboratory Genetics
Spain
8677
  • -- Sequence analysis of the entire coding region

Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes

Reference Laboratory Genetics
Spain
1718
  • -- Sequence analysis of the entire coding region

Ondine Syndrome (Congenital Central Hypoventilation Syndrome), Panel Massive Sequencing (NGS) 6 Genes

Reference Laboratory Genetics
Spain
16
  • -- Sequence analysis of the entire coding region

Congenital Central Hypoventilation Syndrome: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
117
  • D Deletion/duplication analysis

HYPOVENTILATION SYNDROME, CONGENITAL CENTRAL (ONDINE SYNDROME)

Laboratorio de Genetica Clinica SL
Spain
16
  • -- Mutation scanning of select exons
  • -- Sequence analysis of the entire coding region

Ondine Syndrome, Sequencing BDNF Gene

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

Hirschsprung Disease Panel

Blueprint Genetics
Finland
115
  • -- Deletion/duplication analysis
  • -- Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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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