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Results: 41 to 60 of 162

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hypoglycemia (WES based NGS panel of 62 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
162
  • C Sequence analysis of the entire coding region

Glycogenosis (WES based NGS panel of 28 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
128
  • C Sequence analysis of the entire coding region

Glycogen storage disease (WES based NGS panel of 22 genes, including analysis of CNVs)

CGC Genetics Unilabs
Portugal
122
  • C Sequence analysis of the entire coding region

Nephrology Panel 

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

Glycogen storage disease due to glucose-6-phosphatase deficiency type 1A (sequence analysis of G6PC gene)

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

Recessive and X-Linked Variant Carrier Screening Test

Mendelics
Brazil
1211
  • C Sequence analysis of the entire coding region

Neonatal Baby Cheek Screening Test

Mendelics
Brazil
1342
  • C Sequence analysis of the entire coding region

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
287578
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneSeq PLUS, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292597
  • C Sequence analysis of the entire coding region

Partner Reflex to GeneSeq

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

Inheritest 300 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
172350
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Inheritest 500 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Inheritest High Frequency panel

Integrated Genetics Westborough LabCorp
United States
109110
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Inheritest 100 PLUS panel

Integrated Genetics Westborough LabCorp
United States
115142
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Hereditary Cancer Panel (Complete)

Mendelics
Brazil
1264
  • C Sequence analysis of the entire coding region

Treatable Disorders Panel

Mendelics
Brazil
1369
  • C Sequence analysis of the entire coding region

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

GLYCOGENOSIS SYNDROME PANEL

Laboratorio de Genetica Clinica SL
Spain
138
  • E Sequence analysis of select exons

Results: 41 to 60 of 162

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.