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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657, Autosomal recessive; SPATCCM (Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome) (SLC1A4 gene) (Sequence Analysis-All Coding Exons) (Postna

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657, Autosomal recessive; SPATCCM (Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome) (SLC1A4 gene) (Sequence Analysis-All Coding Exons) (Prenat

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Microcephaly Panel

Genetic Services Laboratory University of Chicago
United States
72133
  • 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

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia / Spastic Paraplegia Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
451452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia / Spastic Paraplegia Panel

Centogene AG - the Rare Disease Company
Germany
442443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
971680
  • D Deletion/duplication analysis

Invitae Cerebral Palsy Spectrum Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
638419
  • D Deletion/duplication analysis

Epilepsy exome

Genetic Services Laboratory University of Chicago
United States
47125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genomic Unity Motor Neuron Disorders Analysis (includes AR, C9ORF72 STR analysis)

Variantyx, Inc.
United States
14118
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Neurotransmitter Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
5244
  • 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
47125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.