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Results: 1 to 20 of 50 (representing 20 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Microcephaly Sequencing Panel

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

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Microcephaly, autosomal recessive type 9

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

Microcephaly panel

Centogene AG - the Rare Disease Company
Germany
127
  • 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

Seckel syndrome 5

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

Comprehensive Primordial Dwarfism Panel

Genetic Services Laboratory University of Chicago
United States
1828
  • C Sequence analysis of the entire coding region

Seckel Syndrome Panel

Genetic Services Laboratory University of Chicago
United States
310
  • 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

CEP152 -Related Disorders via the CEP152 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primary Microcephaly, Autosomal Recessive, Sanger Sequencing Panel

PreventionGenetics
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autosomal Recessive Primary Microcephaly Tier 2 panel

Genetic Services Laboratory University of Chicago
United States
224
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
6867
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SYNDROME DE SECKEL: NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
77
  • C Sequence analysis of the entire coding region

PRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY)

Laboratorio de Genetica Clinica SL
Spain
1212
  • C Sequence analysis of the entire coding region

SECKEL SYNDROME

Laboratorio de Genetica Clinica SL
Spain
66
  • C Sequence analysis of the entire coding region

Brain malformations

Asper Biogene Asper Biogene LLC
Estonia
185145
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 50

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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