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Results: 1 to 13 of 13

Tests names and labsConditionsGenes, analytes, and microbesMethods

NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA)

BloodGenetics
Spain
3933
  • C Sequence analysis of the entire coding region

TBCE - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Hypoparathyroidism Panel

Invitae
United States
4118
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207, Autosomal recessive; PEAMO (Sanjad-Sakati syndrome) (TBCE 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

Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207, Autosomal recessive; PEAMO (Sanjad-Sakati syndrome) (TBCE 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

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

Epileptic encephalopathy panel. 128-gene NGS panel.

Genologica Medica
Spain
197128
  • C Sequence analysis of the entire coding region

Complete epilepsy panel. NGS panel of 283 genes.

Genologica Medica
Spain
409283
  • C Sequence analysis of the entire coding region

Spinal muscular atrophy panel. 30-gene NGS panel.

Genologica Medica
Spain
6530
  • C Sequence analysis of the entire coding region

Epilepsy

Asper Biogene Asper Biogene LLC
Estonia
210204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 13 of 13

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