NGS & Advanced Sequencing
DNA Labs India | Diagnostic Tests
NGS & Advanced Sequencing
Clinical Overview
Sub-category mapping under Genetics & Genomics
| Reviewed by: Dr. Rajesh Kumar, MD Pathology | ISO 9001:2015 Certified Laboratory
This content is for educational purposes only. Always consult a qualified healthcare provider for medical advice.
Tests
ACAT1 Gene Methylacetoacetic aciduria NGS Genetic Test
To identify pathogenic mutations in the ACAT1 gene that cause methylacetoacetic aciduria, enabling a...
PTF1A Gene Pancreatic and cerebellar agenesis NGS Genetic Test
The purpose of the PTF1A Gene NGS Genetic Test is to identify pathogenic mutations in the PTF1A gene...
SERHL2 Gene Serine hydrolase deficiency, SERHL2 related NGS Genetic Test
To detect mutations in the SERHL2 gene for accurate diagnosis of SERHL2 Gene Serine Hydrolase Defici...
Comprehensive Ear Nose Throat Panel NGS Genetic Test
To identify genetic causes of ear, nose, and throat disorders for accurate diagnosis, personalized t...
IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test
The purpose of the IARS2 Gene NGS Genetic Test is to accurately diagnose mutations in the IARS2 gene...
Clinical Exome Next Generation Sequencing Test
The purpose of the Clinical Exome NGS Test is to diagnose genetic disorders by identifying mutations...
ATAC Sequencing
To study chromatin accessibility and identify regulatory elements in the genome for understanding ge...
ddRAD Sequencing-96 Samples
ddRAD sequencing is used for high-throughput analysis of genetic variations, enabling applications i...
Hi-C Sequencing
The purpose of Hi-C sequencing is to map the three-dimensional structure of the genome, identify chr...
Eukaryotic Stranded mRNA Sequencing
The purpose of eukaryotic stranded mRNA sequencing is to analyze gene expression patterns, identify...
Eukaryotic mRNA Sequencing
To diagnose genetic disorders by analyzing gene expression and mutations through mRNA sequencing, en...
Eukaryotic Stranded Transcriptome Sequencing-Including lncRNA
The purpose of Eukaryotic Stranded Transcriptome Sequencing is to provide a comprehensive view of ge...
Eukaryotic mRNA Sequencing Library Preparation
The purpose of Eukaryotic mRNA Sequencing Library Preparation is to prepare high-quality sequencing...
Eukaryotic Transcriptome Sequencing-Including lncRNA
The purpose of Eukaryotic Transcriptome Sequencing including lncRNA is to analyze gene expression an...
Eukaryotic mRNA Sequencing Library Preparation-Ultra Low Input
The purpose of eukaryotic mRNA sequencing library preparation is to enable comprehensive sequencing...
Eukaryotic mRNA Sequencing-Low Input
To analyze gene expression patterns, identify differentially expressed genes, and discover novel tra...
Bacterial Stranded Transcriptome Library Preparation
The purpose of Bacterial Stranded Transcriptome Library Preparation is to analyze the gene expressio...
Eukaryotic Transcriptome Library Preparation- Including lncRNA
The purpose of eukaryotic transcriptome library preparation is to enable comprehensive gene expressi...
Eukaryotic Stranded Transcriptome Library Preparation- Including lncRNA
To prepare a strand-specific cDNA library from eukaryotic RNA for sequencing, enabling detailed anal...
Exome Max Test
The purpose of the Exome Max Test is to diagnose genetic disorders by analyzing all coding DNA regio...
SIX5 Gene Branchiootorenal Syndrome Type 2 NGS Genetic Test
The purpose of this NGS genetic test is to accurately detect pathogenic variants in the SIX5 gene th...
UBE3B Gene Blepharophimosis-Ptosis-Intellectual Disability Syndrome NGS Genetic Test
The primary purpose is to identify pathogenic variants in the UBE3B gene to confirm or exclude Bleph...
IARS2 Gene Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the IARS2 gene that may explain the p...
HPS4 Gene Hermansky Pudlak Syndrome Type 4 NGS Genetic Test
To confirm a clinical diagnosis of Hermansky-Pudlak Syndrome Type 4 by identifying pathogenic varian...
HPS3 Gene Hermansky-Pudlak Syndrome Type 3 NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the HPS3 gene to establish a mo...
CR1 Gene CR1 deficiency NGS Genetic Test
To detect pathogenic mutations in the CR1 gene for the genetic confirmation of CR1 deficiency, suppo...
COG7 Gene Glycosylation disorder type 2E NGS Genetic Test
The purpose of this NGS genetic test is to identify a disease-causing variant in the COG7 gene in in...
ACAD9 Gene Leigh syndrome and mitochondrial encephalopathy NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the ACAD9 gene associate...
PSAP Gene Metachromatic leukodystrophy due to Saposin B deficiency NGS Genetic Test
The purpose of this test is to confirm or rule out saposin B deficiency as the cause of metachromati...
AKAP1 Gene Mitochondrial Disorders, AKAP1 related NGS Genetic Test
To detect pathogenic variants in the AKAP1 gene associated with mitochondrial disorders, enabling ac...
ACTA2 Gene Multisystemic smooth muscle dysfunction syndrome NGS Genetic Test
The purpose of this test is to identify sequence variants in the ACTA2 gene using next-generation se...
POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2 NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the POMT2 gene that cause muscular dy...
DNMT1 Gene Neuropathy sensor type 1E NGS Genetic Test
To detect disease-causing variants in the DNMT1 gene in a person with suspected hereditary sensory n...
OFD1 Gene Oral-facial-digital syndrome type 1 NGS Genetic Test
The OFD1 Gene NGS Genetic Test is performed to confirm a clinical diagnosis of Oral-Facial-Digital S...
PEX11B Gene Peroxisome biogenesis disorder 14B NGS Genetic Test
To identify disease-relevant variants in the PEX11B gene by NGS. This supports confirmation of a cli...
HSD17B4 Gene Perrault syndrome NGS Genetic Test
The purpose of this test is to identify disease-causing pathogenic variants in the HSD17B4 gene, con...
TWNK Gene Perrault syndrome type 5 NGS Genetic Test
The purpose of this test is to detect germline variants in the TWNK gene that are associated with Pe...
HARS2 Gene Perrault syndrome type 2 NGS Genetic Test
To detect pathogenic variants in the HARS2 gene using Next Generation Sequencing technology for the...
IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test
To diagnose mutations in the IARS2 gene associated with cataracts, growth hormone deficiency, sensor...
JAG2 Gene Craniofacial and neuro-developmental abnormalities, JAG2 related NGS Genetic Test
The purpose of the JAG2 Gene NGS Genetic Test is to detect pathogenic or likely pathogenic mutations...
CHD7 Gene Kallmann syndrome type 5 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Kallmann Syndrome Type 5 by detecting...
GDF6 Gene Klippel-Feil syndrome type 1, autosomal dominant NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the GDF6 gene that cause Klippel-Fe...
MEOX1 Gene Klippel-Feil syndrome type 2, autosomal dominant NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the MEOX1 gene that cause Klippel-Fe...
GDF3 Gene Klippel-Feil syndrome type 3, autosomal dominant NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the GDF3 gene associated with Klippel...
MYO18B Gene Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the MYO18B gene that caus...
EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the EFTUD2 gene that cause mandibulo...
B3GAT3 Gene Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of B3GAT3-related disorder, identify the...
BRAF Gene Noonan syndrome type 7 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the BRAF gene that cause Noonan synd...
PAX2 Gene Papillorenal syndrome NGS Genetic Test
The purpose of the PAX2 Gene NGS Genetic Test is to identify pathogenic mutations in the PAX2 gene t...
IRF6 Gene Popliteal pterygium syndrome type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Popliteal Pterygium Syndrome Type 1 b...
CEP152 Gene Seckel syndrome type 5 NGS Genetic Test
The purpose of this test is to detect mutations in the CEP152 gene that cause Seckel Syndrome Type 5...
XRCC4 Gene Short stature, microcephaly, and endocrine dysfunction NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the XRCC4 gene that may be responsibl...
NBAS Gene Short stature, optic nerve atrophy, and Pelger-Huet anomaly NGS Genetic Test
The primary purpose of this test is to confirm or rule out a genetic cause for clinical features suc...
DLX5 Gene Split-hand/foot malformation type 1 with sensorineural hearing loss NGS Genetic Test
The purpose of this test is to identify mutations in the DLX5 gene that cause SHFM1 with sensorineur...
B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic Test
The primary purpose of this NGS genetic test is to confirm a clinical diagnosis of SEMDJL1 by identi...
HPSE2 Gene Urofacial syndrome type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Urofacial syndrome type 1 by detectin...
LRIG2 Gene Urofacial syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical suspicion of Urofacial syndrome by identifying pat...
ACTG2 Gene Visceral myopathy NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of visceral myopathy by identifying path...
Whole Exome Sequencing + RAW DATA WES Test
The primary purpose of Whole Exome Sequencing is to identify the genetic cause of a suspected inheri...
Whole Exome+ Mitochondrial Genome Sequencing
The purpose of Whole Exome + Mitochondrial Genome Sequencing is to identify genetic variants that ma...
Human Exome Sequencing and Analysis- Twist Human Core Exome
The primary purpose of human exome sequencing is to identify the genetic cause of a suspected inheri...
Genotyping by Sequencing and Primary Analysis-96 Samples
The purpose of Genotyping by Sequencing is to identify genetic variations (SNPs, indels) across the...
Human Exome Sequencing- SureSelect V6
The primary purpose of Human Exome Sequencing is to identify the underlying genetic cause of a patie...
Human Exome Sequencing- Twist Human Core Exome
The primary purpose of human exome sequencing is to identify genetic variants that cause or contribu...
DNA Library Preparation-ONT
The purpose of DNA library preparation-ONT is to prepare a DNA sample for sequencing using Oxford Na...
PacBio Sequel II Library Preparation
The purpose of PacBio Sequel II library preparation is to convert high-molecular-weight DNA into a s...
Human Exome Data Analysis-Variant Calling and Annotation
The primary purpose of this test is to analyze exome sequencing data to identify clinically relevant...
Human Genome Reference Based Data Analysis-Illumina
The purpose of Human Genome Reference Based Data Analysis is to identify genetic variations that may...
ddRAD Sequencing Primary Data Analysis-96 Samples
The purpose of ddRAD sequencing primary data analysis is to process raw sequencing data from 96 samp...
Eukaryotic Transcriptome Sequencing and Reference Based Analysis-Including lncRNA
The purpose of eukaryotic transcriptome sequencing with reference-based analysis is to comprehensive...
Eukaryotic Stranded Transcriptome Sequencing and Reference Based Analysis-Including lncRNA
The primary purpose of this test is to provide a comprehensive and quantitative profile of the trans...
Eukaryotic Transcriptome Sequencing Reference Based Data Analysis- Including lncRNA
The purpose of this test is to analyze the transcriptome of eukaryotic cells to identify gene expres...
Sequencing Library QC-TapeStation
The purpose of the Sequencing Library QC-TapeStation test is to verify the quality and quantity of a...
2x150 Miseq Sequencing-Flow Cell
The primary purpose of the 2x150 Miseq Sequencing Flow Cell is to perform high-resolution DNA sequen...
Sequencing Library QC-qPCR
The primary purpose of Sequencing Library QC-qPCR is to determine the concentration of the DNA libra...
2x300 Miseq Sequencing-Flow Cell
The purpose of the 2x300 Miseq Sequencing Flow Cell is to provide high-resolution sequencing data fo...
2x150 Hiseq Sequencing-One Lane
The purpose of 2x150 HiSeq Sequencing is to provide high-resolution genomic data for research and cl...
2x150 Hiseq Sequencing- 3 GB
The purpose of the 2x150 Hiseq Sequencing test is to detect genetic variations that may be responsib...
2x150 Hiseq Sequencing- 1 GB
The purpose of the 2x150 HiSeq Sequencing (1GB) test is to provide high-resolution genetic data for...
2x150 Hiseq Sequencing- 10 GB
The purpose of 2x150 Hiseq Sequencing is to provide comprehensive genetic data for the diagnosis of...
2x150 Hiseq Sequencing- 5 GB
The purpose of 2x150 Hiseq Sequencing is to provide high-resolution genetic data for accurate diagno...
2x150 Hiseq Sequencing- 20 GB
The primary purpose of the 2x150 HiSeq Sequencing (20GB) is to identify genetic mutations that may b...
Oxford Nanopore-Flow Cell
The purpose of the Oxford Nanopore Flow Cell test is to sequence DNA with high accuracy and speed to...
PacBio Sequel- 30 GB
The purpose of the PacBio Sequel 30GB test is to provide a complete and accurate picture of an indiv...
PacBio Sequel- 1GB
The purpose of PacBio Sequel 1GB is to provide a comprehensive and accurate genetic diagnosis by seq...
Oxford Nanopore- 1GB
The purpose of Oxford Nanopore 1GB sequencing is to provide high-quality long-read DNA sequence data...