SLS165510
| Couple Carrier Screening | Identifies couples with autosomal recessive/X-linked disease-causing mutations in ~2000 genes to assess risk in pregnancy. | Blood/Saliva/Cheek Swab/Genomic DNA/Dry Blood Spot | | Preconception Stage |
SLS165537
| PGT A/SR* *To be launched | Preimplantation Genetic Testing for Aneuploidies (PGT-A) is an NGS-based technology used in Assisted Reproductive Technology (ART) procedures to detect chromosomal aneuploidies, including gains and losses across all chromosomes. | Trophectoderm
(Day 5 Biopsy) | | Preconception Stage |
SLS14027 | MLPA DMD | Multiple ligation-dependent probe amplification (MLPA) analysis can detect if a person suffers from or carries mutations in the dystrophin gene that could cause Duchenne Muscular Dystrophy (DMD). DMD is a rare inherited disorder, which is X-linked and recessive, which means that it primarily affects men, while women are usually carriers. | Whole Blood in EDTA | | Preconception Stage |
Up coming | Infertility Screening Panel *To be launched | The Infertility Screening Panel conducts a comprehensive genetic assessment for couples struggling to conceive after a year of attempts. | Blood/Saliva/Genomic DNA/Dry Blood Spot/Cheek/Buccal Swab | | Preconception Stage |
SLS165527
| MaatriSeq (NIPS) | MaatriSeq is India’s first non invasive prenatal screening test that is specifically developed and validated on Indian samples and conditions. | 10 ml Maternal Blood | | Prenatal Stage |
SLS165540 | MaatriSeq NIPS Advance | The MaatriSeq Microdeletion & Microduplication Test extends the MaatriSeq test by screening for six common microdeletions and duplications, including DiGeorge syndrome (22q11.2 deletion). | Blood for Plasma/cfDNA | | Prenatal Stage |
SLS165501
| AneuXpress (QF-PCR) | AneuXpress QF-PCR is a rapid DNA-based test for precise detection of common aneuploidies, including trisomies 13, 18, 21, and gonosomal aneuploidies. | Blood/Saliva/Genomic DNA/Dry Blood Spot/PoC | | Prenatal Stage |
SLS165532
| CNSeq (500 KB resolution) | CNSeq is an advanced NGS-based test that surpasses traditional methods of chromosomal analysis by offering superior accuracy in CNV detection, uniform variant calling, and low-level mosaicism detection at 500 Kb resolution. | Blood/Amniotic Fluid/Genomic DNA/CVS/PoC | | Prenatal Stage |
SLS165533
| CNSeq HD (50 KB resolution) | CNSeqHD offers high-resolution (~50 kb) NGS-based chromosomal analysis, enabling unbiased detection of aneuploidies and CNVs (deletions/duplications) across the entire genome. | Blood/Amniotic Fluid/Genomic DNA/CVS/PoC | | Prenatal Stage |
SLS166004
| ExomePlus | ExomePlus delivers in-depth, high-throughput sequencing data ensuring comprehensive coverage of the exome to help clinicians diagnose genetic anomalies in fetuses. | Blood/Amniotic Fluid/Genomic DNA/CVS/PoC/Cheek/Buccal Swab/Saliva/Dry Blood Spot | | Prenatal Stage | Pediatric Stage | Adult Stage |
SLS166000 | Clinical Exome Sequencing | Clinical Exome Sequencing targets ~6500 genes associated with a wide range of genetic disorders to identify variants associated with hereditary diseases. | Blood/Amniotic Fluid/Genomic DNA/PoC/Cheek/Buccal Swab/Saliva/Dry Blood Spot | | Prenatal Stage | Pediatric Stage |
SLS165530
| Whole Exome Trio | Whole Exome Trio sequences ~20,000 genes in a patient and his/her parents to identify genetic variants (SNVs, indels, CNVs) and determine disease causality through inheritance patterns. | Blood/Amniotic Fluid/Genomic DNA/CVS/PoC/Cheek/Buccal Swab/Saliva/Dry Blood Spot | | Prenatal Stage |
SLS165526
| ExomePlus Trio | ExomePlus Trio is an advanced version of the Whole Exome Trio and sequences ~20,000 genes in a patient and his/her parents to reveal disease-causing variants and chromosomal abnormalities. | Blood/Amniotic Fluid/Genomic DNA/CVS/PoC/Cheek/Buccal Swab/Saliva/Dry Blood Spot | | Prenatal Stage |
SLS165532
| CNSeq | CNSeq, an advanced NGS-based chromosomal analysis, surpasses traditional methods by offering superior accuracy in CNV detection, uniform calling, 500kb resolution, and low-level mosaicism detection. | Blood/Saliva/Cheek Swab/
Genomic DNA/Dry Blood Spot | | Pediatric Stage |
SLS165533
| CNSeq HD | CNSeqHD offers high-resolution (~50kb) NGS-based chromosomal analysis, enabling unbiased detection of aneuploidies and CNVs (deletions/duplications) across the entire genome. | Blood/Saliva/Cheek Swab/
Genomic DNA/Dry Blood Spot | | Pediatric Stage |
SLS166001 | WES | Whole Exome Sequencing comprehensively analyzes protein-coding genes to rapidly identify genetic changes relevant to patient diagnoses. | Blood/Amniotic Fluid/Genomic DNA/CVS/PoC/Cheek/Buccal Swab/Saliva/Dry Blood Spot | | Pediatric Stage | Adult Stage |
SLS14024 | CAH MLPA | Multiple ligation-dependent probe amplification (MLPA) analysis can detect if a person suffers from or carries mutations (deletions/duplications) in the CYP21A2 gene, which causes congenital adrenal hyperplasia (CAH). | Blood/Saliva/Cheek Swab/Genomic DNA/Dry Blood Spot | | Pediatric Stage |
SLS166500
| WGS | Whole Genome Sequencing offers comprehensive genome analysis for detecting all variant types (SNVs, indels, SVs, CNVs, mitochondrial, UPD) with high sensitivity and specificity. | Blood/Saliva/Cheek Swab/
Genomic DNA/Dry Blood Spot | | Pediatric Stage | Adult Stage |