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Results: 1 to 20 of 30

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

STIL - 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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Brain Malformations Panel

Invitae
United States
247161
  • D Deletion/duplication analysis

Microcephaly 7, primary, autosomal recessive, 612703, Autosomal recessive; MCPH7 (Autosomal recessive primary microcephaly) (STIL 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

Microcephaly 7, primary, autosomal recessive, 612703, Autosomal recessive; MCPH7 (Autosomal recessive primary microcephaly) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Microcephaly 7, primary, autosomal recessive, 612703, Autosomal recessive; MCPH7 (Autosomal recessive primary microcephaly) (STIL 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

Microcephaly 7, primary, autosomal recessive, 612703, Autosomal recessive; MCPH7 (Autosomal recessive primary microcephaly) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Holoprosencephaly Panel

Genetic Services Laboratory University of Chicago
United States
216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary Microcephaly, Autosomal Recessive, via the STIL Gene

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

Primary Microcephaly, Autosomal Recessive, Panel

PreventionGenetics
United States
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel.

Genologica Medica
Spain
6348
  • C Sequence analysis of the entire coding region

Microcephaly Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
6748
  • C Sequence analysis of the entire coding region

STIL

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Microcephaly, primary autosomal recessive: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
2525
  • 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

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations

Athena Diagnostics Inc
United States
4340
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 30

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.