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Results: 1 to 20 of 42

Tests names and labsConditionsGenes, analytes, and microbesMethods

CCDC28B Gene Bardet-Biedl syndrome, modifier of, CCDC28B related NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CCDC28B - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Diabetes and Obesity Panel

Centogene AG - the Rare Disease Company
Germany
247262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bardet-Biedl syndrome 1, modifier of, 209900, Autosomal recessive, Digenic recessive; BBS1 (Bardet-Biedl syndrome) (CCDC28B 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

Bardet-Biedl syndrome 1, modifier of, 209900, Autosomal recessive, Digenic recessive; BBS1 (Bardet-Biedl syndrome) (CCDC28B 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Bardet-Biedl Syndrome

Amplexa Genetics Amplexa Genetics A/S
Denmark
125
  • S Mutation scanning of the entire coding region

Bardet-Biedl syndrome (WES based NGS panel of 21 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
121
  • C Sequence analysis of the entire coding region

Idiopathic renal failure on young (NGS panel of 173 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1173
  • C Sequence analysis of the entire coding region

Polycystic kidney disease and related diseases (NGS panel of 72 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
172
  • C Sequence analysis of the entire coding region

Nephrology Panel 

CGC Genetics Unilabs
Portugal
1334
  • C Sequence analysis of the entire coding region

Congenital Heart Defects Panel 

CGC Genetics Unilabs
Portugal
1208
  • C Sequence analysis of the entire coding region

Bardet-Biedl syndrome CCDC28B related (sequence analysis of CCDC28B gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

GLOBAL CILIOPATHIES EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1273
  • E Sequence analysis of select exons

Results: 1 to 20 of 42

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.