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:
- To confirm mutations detected by NGS : Sanger Validation
- Targeted analysis of at-risk family members
- Prenatal testing of mutations causing familial genetic disorder.
Tests Offered
1. Beta thalassemia: B globin gene sequencing
Beta Thalessemia (Common Mutations)
- Blood EDTA, Extracted DNA, Dried Blood Spot, AF*, CVS*
TAT: 15 Working Days
Beta Globin (HBB) Gene Sequencing
- Blood EDTA, Extracted DNA, AF*, CVS*
TAT: 15 Working Days
Beta Globin Gene Trio / Beta Thalessemia Trio
- Blood EDTA, Extracted DNA, AF*, CVS*
TAT: 15 Working Days
Sickle Cell Gene Sequencing
- Blood EDTA, Extracted DNA, AF*, CVS*
TAT: 15 Working Days
2. Sanger Validation**
(Sanger testing of mutations detected by NGS)
Acceptable samples
- Blood EDTA
- Amniotic Fluid (AF)
- Chorionic Villus Sampling/ Biopsy (CVS)
TAT: 28 Working Days
3. Familial variant testing **
(Targeted testing of at risk members)
Acceptable samples
- Blood EDTA
- Amniotic Fluid (AF)
- Chorionic Villus Sampling/ Biopsy (CVS)
TAT: 28 Working Days
4. Prenatal Sanger**#
Testing of chorionic villous tissue or amniotic fluid for Known mutations.
Acceptable samples
- Amniotic Fluid (AF)
- Chorionic Villus Sampling/ Biopsy (CVS)
TAT: 15 Working Days
Note:
- ** Copies of previous reports where mutation has been identified is mandatory
- # Maternal cell contamination testing is recommended for all Prenatal cases. 4 ml maternal Whole Blood EDTA is required for the same.
Accreditations
The above accreditations have been granted to NEUBERG SUPRATECH REFERENCE LABORATORIES PRIVATE LIMITED (NSRL). The Neuberg Center for Genomic Medicine (NCGM) is affiliated to NSRL.