Sanger Sequencing

Sanger sequencing, also known as chain-termination sequencing or di-deoxy sequencing technique that uses oligonucleotide primers to seek out specific DNA regions. Sanger sequencing is a robust testing strategy able to determine whether a point mutation or small deletion/duplication is present. Sanger sequencing serves as an orthogonal method for confirming sequence variants identified by NGS and also used to sequence uncovered or poorly covered region by NGS. Sanger Sequencing: Determines the sequence of nucleotide basis with an accuracy of 99.9%.

Indications:

Tests Offered

1. Beta thalassemia: B globin gene sequencing

Beta Thalessemia (Common Mutations)

TAT: 20 Working Days

Beta Globin (HBB) Gene Sequencing

TAT: 20 Working Days

Beta Globin Gene Trio / Beta Thalessemia Trio

TAT: 20 Working Days

Sickle Cell Gene Sequencing

TAT: 20 Working Days

2. Sanger Validation**

(Sanger testing of mutations detected by NGS)

Acceptable samples

TAT: 28 Working Days

3. Familial variant testing **

(Targeted testing of at risk members)

Acceptable samples

TAT: 28 Working Days

4. Prenatal Sanger**#

Testing of chorionic villous tissue or amniotic fluid for Known mutations.

Acceptable samples

TAT: 20 Working Days

Note:

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Accreditations

CLIA No. 34D2205781