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Results: 1 to 16 of 16 (representing 9 labs)

Tests names and labsConditionsGenes and analytesMethods

Microcephaly Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
6478
  • C Sequence analysis of the entire coding region

Microcephaly, autosomal recessive type 4

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

Microcephaly, primary, autosomal recessive type 4

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

Microcephaly 4, primary, autosomal recessive

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

CEP152 sequencing

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

Brain malformations

Asper Biotech Asper Biotech Ltd.
Estonia
185145
  • C Sequence analysis of the entire coding region

Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
913
  • C Sequence analysis of the entire coding region

Microcephaly

Asper Biotech Asper Biotech Ltd.
Estonia
2424
  • C Sequence analysis of the entire coding region

Microcephaly 4, primary, AR (sequence analysis of CASC5 gene)

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

Microcephaly and Pontocerebellar Hypoplasia Panel

CeGaT GmbH
Germany
3836
  • C Sequence analysis of the entire coding region

Microcephaly and Pontocerebellar Hypoplasia Panel

CeGaT GmbH
Germany
3836
  • C Sequence analysis of the entire coding region

CASC5

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurology: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
255164
  • C Sequence analysis of the entire coding region

Primordial Dwarfism NGS Panel

Fulgent Genetics
United States
1712
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microcephaly NGS Panel

Fulgent Genetics
United States
5235
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy NGS Panel

Fulgent Genetics
United States
597343
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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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