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Results: 1 to 20 of 232

Tests names and labsConditionsGenes, analytes, and microbesMethods

HDAC8 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
31
  • C Sequence analysis of the entire coding region

Beckwith-Wiedemann Syndrome (methylation test)

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
22
  • M Methylation analysis

NIPBL mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
21
  • C Sequence analysis of the entire coding region

SMC1A mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
21
  • C Sequence analysis of the entire coding region

LIFR mutation analysis (Stuve-Wiedemann Syndrome)

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
11
  • C Sequence analysis of the entire coding region

WDR73 mutation analysis (Galloway-Mowat syndrome)

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
11
  • C Sequence analysis of the entire coding region

EPG5 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
11
  • C Sequence analysis of the entire coding region

UPD14 methylation test

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
21
  • D Deletion/duplication analysis
  • M Methylation analysis
  • U Uniparental disomy study (UPD)

KCNJ5 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
11
  • C Sequence analysis of the entire coding region

SMARCA2 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
11
  • E Sequence analysis of select exons

CDKN1C mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
21
  • C Sequence analysis of the entire coding region

NKX2-1 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ABCC8 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KCNH2 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KCNQ1 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SCN5A mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
61
  • C Sequence analysis of the entire coding region

Factor VIII mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ABCB4 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ABCB11 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
31
  • C Sequence analysis of the entire coding region

ATP8B1 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
31
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 232

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.