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Results: 1 to 20 of 44

Tests names and labsConditionsGenes and analytesMethods

Microcephaly Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
6469
  • C Sequence analysis of the entire coding region

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

CASK deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

CASK sequencing

Genetic Services Laboratory University of Chicago
United States
21
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Mental retardation and microcephaly with pontine and cerebellar hypoplasia

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

Early Infantile Epileptic Encephalopathy Panel

Genetic Services Laboratory University of Chicago
United States
4245
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy

Asper Biotech Asper Biotech Ltd.
Estonia
121123
  • C Sequence analysis of the entire coding region

Mental retardation, X-linked, non-syndromic

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3531
  • C Sequence analysis of the entire coding region

Epileptic encephalopathies

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3535
  • C Sequence analysis of the entire coding region

EpilepsyNext

Ambry Genetics
United States
104100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spinocerebellar Ataxia

Asper Biotech Asper Biotech Ltd.
Estonia
6663
  • C Sequence analysis of the entire coding region

Neurodevelopment-Expanded

Ambry Genetics
United States
105196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microcephaly

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

Mental retardation, X-linked (NGS panel for 89 genes)

CGC Genetics
Portugal
4989
  • C Sequence analysis of the entire coding region

Single gene testing CASK

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

Mental retardation and microcephaly with pontine and cerebellar hypoplasia (sequence analysis of CASK 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

Results: 1 to 20 of 44

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.