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Results: 1 to 20 of 58 (representing 21 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Benign familial neonatal seizures

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiRapid

Ambry Genetics
United States
3916
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiFirst - Neonate

Ambry Genetics
United States
75
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KCNQ2. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
42
  • C Sequence analysis of the entire coding region

KCNQ3. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
42
  • C Sequence analysis of the entire coding region

PRRT2. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
42
  • C Sequence analysis of the entire coding region

KCNQ2. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

KCNQ2. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

KCNQ3. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy and Benign Familial Neonatal Seizures via the KCNQ2 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Early Infantile Epileptic Encephalopathy: Dominant and X-linked Sequencing Panel

PreventionGenetics
United States
4139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Benign Familial Neonatal Epilepsy , Deletions-Duplications (MLPA) KCNQ2 Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Results: 1 to 20 of 58

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.

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