U.S. flag

An official website of the United States government

Filters

reset all
See more specimen types...

Other countries

Results: 1 to 20 of 27

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KAT6B - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SBBYSS syndrome, 603736 (Blepharophimosis-intellectual disability syndrome, SBBYS type) (KAT6B 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

SBBYSS syndrome, 603736 (Blepharophimosis-intellectual disability syndrome, SBBYS type) (KAT6B 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

Top 99 Genetic Causes of Developmental Delay Panel

PreventionGenetics, part of Exact Sciences
United States
17099
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

KAT6B-Related Disorders via the KAT6B 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

Comprehensive Hearing Loss + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
218300
  • C Sequence analysis of the entire coding region

KAT6B

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

Arthrogryposis panel. NGS panel of 69 genes.

Genologica Medica
Spain
13569
  • C Sequence analysis of the entire coding region

Periventricular heterotopia panel

Genologica Medica
Spain
5220
  • C Sequence analysis of the entire coding region

Central skeletal dysplasias panel. NGS panel of 111 genes.

Genologica Medica
Spain
258111
  • C Sequence analysis of the entire coding region

Arthrogryposis Panel    

GeneDx
United States
15691
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant (KAT6B Single Gene Test)

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

Arthrogryposis NGS Panel

Fulgent Genetics
United States
17560
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan and RASopathies NGS Panel

Fulgent Genetics
United States
23526
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genitopatellar Syndrome (KAT6B Single Gene Test)

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

Noonan Spectrum Disorders Panel, Sequencing, Fetal

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
1015
  • C Sequence analysis of the entire coding region

KAT6B-Related Disorders: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
21
  • C Sequence analysis of the entire coding region

OHDO BLEFAROFIMOSIS SYNDROME, VARIANT SBBYS

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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.