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Results: 1 to 20 of 33

Tests names and labsConditionsGenes, analytes, and microbesMethods

ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

ASCL1 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pulmonary Panel

Centogene AG - the Rare Disease Company
Germany
99101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Central hypoventilation syndrome, congenital, 209880, Autosomal dominant; CCHS (Ondine syndrome) (ASCL1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Central hypoventilation syndrome, congenital, 209880, Autosomal dominant; CCHS (Ondine syndrome) (ASCL1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Haddad syndrome, 209880, Autosomal dominant (Haddad syndrome) (ASCL1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Haddad syndrome, 209880, Autosomal dominant (Haddad syndrome) (ASCL1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Congenital Central Hypoventilation Syndrome (CCHS) via the ASCL1 Gene

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

Congenital Central Hypoventilation Syndrome (CCHS) Panel

PreventionGenetics, part of Exact Sciences
United States
37
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Central hypoventilation syndrome (WES based NGS panel of 6 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
16
  • C Sequence analysis of the entire coding region

Lung Disorders Panel 

CGC Genetics Unilabs
Portugal
1107
  • C Sequence analysis of the entire coding region

Central hypoventilation syndrome (sequence analysis of ASCL1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Hereditary Cancer Panel (Complete)

Mendelics
Brazil
1264
  • C Sequence analysis of the entire coding region

HIRSCHSPRUNG DISEASE EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
118
  • E Sequence analysis of select exons

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

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C 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.