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Results: 1 to 10 of 10

Tests names and labsConditionsGenes, analytes, and microbesMethods

KLHL7 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

Cold-induced sweating syndrome 3, 617055; CISS3 (Cold-induced sweating syndrome) (KLHL7 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

Cold-induced sweating syndrome 3, 617055; CISS3 (Cold-induced sweating syndrome) (KLHL7 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

Invitae Inherited Retinal Disorders Panel

Invitae
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Late-Onset Autosomal Dominant Retinitis Pigmentosa 42 (RP42) and Crisponi/Cold-Induced Sweating Syndrome Type 1(CISS1)-Like Phenotype Associated with Early-Onset Autosomal Recessive Retinitis Pigmentosa via the KLHL7 Gene

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

Retinitis pigmentosa panel

Genologica Medica
Spain
164108
  • C Sequence analysis of the entire coding region

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

KLHL7

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Cold-induced sweating syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
33
  • C Sequence analysis of the entire coding region

Results: 1 to 10 of 10

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