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Results: 21 to 37 of 37

Tests names and labsConditionsGenes, analytes, and microbesMethods

Osteogenesis imperfecta panel. 28-gene NGS panel.

Genologica Medica
Spain
4827
  • C Sequence analysis of the entire coding region

Ichthyosis panel. 31-gene NGS panel.

Genologica Medica
Spain
5831
  • C Sequence analysis of the entire coding region

X-linked intellectual disability panel. 99-gene NGS panel.

Genologica Medica
Spain
14399
  • C Sequence analysis of the entire coding region

Palmoplantar keratoderma panel. 25-gene NGS panel.

Genologica Medica
Spain
6225
  • C Sequence analysis of the entire coding region

Intellectual Disability X-linked Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
13690
  • C Sequence analysis of the entire coding region

Intellectual Disability & Autism Spectrum Disorders Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
210139
  • C Sequence analysis of the entire coding region

Ichthyosis

Asper Biogene Asper Biogene LLC
Estonia
6747
  • C Sequence analysis of the entire coding region

MBTPS2

Institute for Human Genetics University Medical Center Freiburg
Germany
41
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta

Asper Biogene Asper Biogene LLC
Estonia
8041
  • C Sequence analysis of the entire coding region

MBTPS2 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

IFAP syndrome with or without BRESHECK syndrome

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Ichthyoses and related disorders of cornification Panel

CeGaT GmbH
Germany
4265
  • C Sequence analysis of the entire coding region

MBTPS2 Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

XLID (X-Linked Intellectual Disability) NGS Panel

Fulgent Genetics
United States
162117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ichthyosis follicularis, atrichia, and photophobia syndrome

Laboratory of Human Genetics GENOMED Health Care Center
Poland
11
  • C Sequence analysis of the entire coding region

Results: 21 to 37 of 37

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