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Results: 1 to 20 of 47

Tests names and labsConditionsGenes, analytes, and microbesMethods

Comprehensive Eye panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
1695
  • C Sequence analysis of the entire coding region

sorbitol

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
21
  • A Analyte

Overgrowth Panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
145
  • E Sequence analysis of select exons

Neurofibromatosis Type 1

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
12
  • E Sequence analysis of select exons

Connective Tissue and Aortopathy Panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
163
  • E Sequence analysis of select exons

Familial Hypercholesterolemia

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
14
  • E Sequence analysis of select exons

Stickler Syndrome Gene Sequencing Panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
17
  • E Sequence analysis of select exons

Early Onset Glaucoma Gene Sequencing Panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
137
  • E Sequence analysis of select exons

Hearing Loss Gene Panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
1136
  • E Sequence analysis of select exons

Congenital Cataract Gene Sequencing Panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
149
  • E Sequence analysis of select exons

GALT Gene Sequencing Assay

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
11
  • E Sequence analysis of select exons

Primary Carnitine Deficiency

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
11
  • A Analyte

Ethylmalonic Encephalopathy

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
12
  • A Analyte

Malonyl-CoA Decarboxylase Deficiency

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
12
  • A Analyte

3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
14
  • A Analyte

Short Chain Acyl-CoA Dehydrogenase Deficiency

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
13
  • A Analyte

Holocarboxylase Synthetase Deficiency

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
16
  • A Analyte

Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
13
  • A Analyte

Galactosemia

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
21
  • A Analyte

Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
18
  • A Analyte

Results: 1 to 20 of 47

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.