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Results: 41 to 60 of 68

Tests names and labsConditionsGenes, analytes, and microbesMethods

ECTODERMAL DYSPLASIA EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1110
  • E Sequence analysis of select exons

Hereditary pancreatitis panel. 9-gene NGS panel.

Genologica Medica
Spain
119
  • C Sequence analysis of the entire coding region

Adams-Oliver syndrome panel. 8-gene NGS panel.

Genologica Medica
Spain
98
  • C Sequence analysis of the entire coding region

Amelogenesis

Bioarray
Spain
1172
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

UBR1 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Custom XomeDx Slice – Differences of Sex Development (Proband Only)

GeneDx
United States
21112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microcephaly Xpanded Panel

GeneDx
United States
1877
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • C Sequence analysis of the entire coding region

Pancreatic Insufficiency Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
44
  • C Sequence analysis of the entire coding region

Pancreas Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
610
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

JOHANSON-BLIZZARD SYNDROME

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

Hypothyroidism Panel

Genetic Services Laboratory University of Chicago
United States
1133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Adams-Oliver Syndrome Panel

Blueprint Genetics
Finland
18
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pancreatitis Panel

Blueprint Genetics
Finland
29
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Syndromal Diseases - panels

MGZ Medical Genetics Center
Germany
14342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 41 to 60 of 68

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.