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Laboratory Test Directory

NOTCH1 Gene Sequencing


Name Method Department Units
NOTCH1 Gene Sequencing Analysis of the entire coding region: Sequence analysis
Polymerase chain reaction (PCR)
Sanger sequencing
DNA extraction
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume

Purple tube (EDTA)

4 mL 4 mL-8 mL

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze

Reasons for Rejection

  • Clotted specimen
  • Frozen specimen
  • Centrifuged specimen
  • Wrong collection tube


Please click on the Lab Form link in the Forms section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended (but not required).

This test is a full gene sequencing of the NOTCH1 gene.

Pathogenic variants (mutations) in the NOTCH1 gene have been associated with nonsyndromic left ventricular outflow tract obstruction (LVOTO) anomalies that appear with either sporadic or familial patterns of inheritance. The sensitivity of sequence analysis for nonsyndromic left ventricular outflow tract obstruction (LVOTO) is currently unknown. Taken together, all studies suggest the frequency of identifying a NOTCH1 mutation in individuals with LVOTO is approximately 4.2%. Thus, this testing will not exclude the possibility of mutations in other as yet unidentified genes that cause of LVOTO. If a mutation is identified, the penetrance is estimated to be 30%. Mutations in the NOTCH1 gene have also been associated with Adams-Oliver syndrome type 5. Almost all reported mutations in the NOTCH1 gene are detectable by gene sequencing methodology; however, sequencing methodoogy will not detect large deletions, duplications, or mutations in NOTCH1 regulartory elements, which have not been reported to date in LVOTO patients.

Targeted mutation analysis for this gene is available for other family members when familial mutation is known (see Test Code: FMLIS).


Lab Form

CPT Code

  • 81407