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Results: 21 to 40 of 63

Tests names and labsConditionsGenes, analytes, and microbesMethods

Schizencephaly, 269160 (Schizencephaly) (EMX2 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

Schizencephaly, 269160 (Schizencephaly) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Schizencephaly, 269160 (Schizencephaly) (EMX2 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

Schizencephaly, 269160 (Schizencephaly) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Schizencephaly, 269160 (Schizencephaly) (SIX3 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

Schizencephaly, 269160 (Schizencephaly) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Schizencephaly, 269160 (Schizencephaly) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

qChip 180

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
527338
  • C Sequence analysis of the entire coding region

Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel

Invitae
United States
13081
  • D Deletion/duplication analysis

EMX2

Amplexa Genetics Amplexa Genetics A/S
Denmark
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

SHH

Institute for Human Genetics University Medical Center Freiburg
Germany
41
  • C Sequence analysis of the entire coding region

SIX3

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Holoprosencephaly panel. 12-gene NGS panel.

Genologica Medica
Spain
2712
  • C Sequence analysis of the entire coding region

Neuronal migration disorder panel. NGS panel of 58 genes.

Genologica Medica
Spain
11057
  • C Sequence analysis of the entire coding region

Childhood Epilepsy NGS Panel

Fulgent Genetics
United States
354209
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neonatal Epilepsy NGS Panel

Fulgent Genetics
United States
509275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cleft Palate/Lip NGS Panel

Fulgent Genetics
United States
12723
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 63

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.