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Results: 61 to 75 of 75

Tests names and labsConditionsGenes, analytes, and microbesMethods

Kabuki Syndrome Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
135136
  • C Sequence analysis of the entire coding region

Invitae Kabuki Syndrome Panel

Invitae
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Comprehensive NGS Panel

Fulgent Genetics
United States
729398
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kabuki syndrome

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

KMT2D Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KDM6A Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • 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

Noonan Spectrum Disorders/Rasopathies

Asper Biogene Asper Biogene LLC
Estonia
4536
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kabuki Syndrome

MGZ Medical Genetics Center
Germany
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kabuki syndrome

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
12
  • C Sequence analysis of the entire coding region

Kabuki syndrome

Institute of Human Genetics Cologne University
Germany
32
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kabuki Syndrome: KMT2D Sequencing

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kabuki Syndrome (KDM6A, MLL2)

Center for Human Genetics, Inc
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 61 to 75 of 75

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.