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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

Microcephaly Panel

Genetic Services Laboratory University of Chicago
United States
72133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Goldberg schprintzen megacolon syndrome testing (KIAA1279)

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KIFBP - 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

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Goldberg-Shprintzen megacolon syndrome, 609460, Autosomal recessive; GOSHS (Goldberg-Shprintzen megacolon syndrome) (KIF1BP 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

Goldberg-Shprintzen megacolon syndrome, 609460, Autosomal recessive; GOSHS (Goldberg-Shprintzen megacolon syndrome) (KIF1BP 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

Brain Malformation Panel

PreventionGenetics
United States
7952
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Goldberg-Shprintzen Megacolon Syndrome via the KIFBP (KIAA1279/KIF1BP) Gene

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

Goldberg-Shprintzen megacolon syndrome (sequence analysis of KIF1BP/KIAA1279 gene)

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

Polymicrogyria panel. 17-gene NGS panel.

Genologica Medica
Spain
2217
  • C Sequence analysis of the entire coding region

Neuronal migration disorder panel. NGS panel of 58 genes.

Genologica Medica
Spain
11057
  • C Sequence analysis of the entire coding region

Brain Malformations Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
11156
  • C Sequence analysis of the entire coding region

Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes

Reference Laboratory Genetics
Spain
4138
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders

Athena Diagnostics Inc
United States
3031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation

Athena Diagnostics Inc
United States
233234
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brain malformations

Asper Biogene Asper Biogene LLC
Estonia
318252
  • C Sequence analysis of the entire coding region

Microcephaly

Asper Biogene Asper Biogene LLC
Estonia
11196
  • C Sequence analysis of the entire coding region

Hirschsprung disease research testing

Aravinda Chakravarti Research Laboratory New York University School of Medicine
United States
2510
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 20

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.