Molecular Diagnostics & DNA Testing
DNA Labs India | Diagnostic Tests
Molecular Diagnostics & DNA Testing
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
Ganciclovir Resistance Detection Test
To detect mutations in CMV that lead to resistance against Ganciclovir, aiding in the selection of a...
Biotinidase Newborn Screen Test
To detect biotinidase deficiency in newborns for early diagnosis and treatment, preventing health co...
Chromosome XON Microarray High Resolution Test
The primary purpose of the Chromosome XON Microarray High Resolution Test is to identify genetic abn...
Cystic Fibrosis Mutation Detection Test
To detect mutations in the CFTR gene for diagnosis of Cystic Fibrosis, carrier screening, and geneti...
CYP2C19 Genotyping Test
The primary purpose of the CYP2C19 Genotyping Test is to determine a patient's metabolizer status fo...
G6PD Gene Mutation Detection Test
This assay is used for the detection of mutations in the G6PD gene to diagnose G6PD deficiency, an X...
Haptoglobin Genotyping Test
The Haptoglobin Genotyping Test is performed to determine an individual's haptoglobin genotype, whic...
Hemochromatosis Detection HFE Genotyping Test
The purpose of the Hemochromatosis Detection HFE Genotyping Test is to detect mutations in the HFE g...
Newborn Screening Panel 5 Test
The primary purpose of the Newborn Screening Panel 5 Test is to screen for specific genetic and meta...
Nx Gen Sequencing: 4H Syndrome Test
The purpose of this test is to detect mutations in the POLR3A, POLR3B, and POLR1C genes to confirm a...
Thalassemia Beta Complete Gene Analysis with MCC Test
This assay is useful to check for uncommon mutations in the HBB gene associated with Thalassemia Bet...
FLNA Gene Frontometaphyseal dysplasia NGS Genetic Test
To identify pathogenic mutations in the FLNA gene for definitive diagnosis of Frontometaphyseal Dysp...
PIEZO2 Gene Marden-Walker syndrome NGS Genetic Test
The purpose of the PIEZO2 Gene Marden-Walker Syndrome NGS Genetic Test is to identify pathogenic mut...
OPHN1 Gene Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance NGS Genetic Test
The purpose of the OPHN1 Gene NGS Genetic Test is to diagnose X-linked mental retardation with cereb...
CLCN4 Gene Raynaud-Claes syndrome NGS Genetic Test
The purpose of the CLCN4 Gene Raynaud-Claes Syndrome NGS Genetic Test is to diagnose Raynaud-Claes S...
SPG7 Gene SPG7 NGS Genetic Test
To identify pathogenic mutations in the SPG7 gene for the diagnosis of hereditary spastic paraplegia...
PEX26 Gene Zellweger syndrome NGS Genetic Test
To diagnose Zellweger syndrome by identifying mutations in the PEX26 gene using Next-Generation Sequ...
FANCE Gene Fanconi anemia type E NGS Genetic Test
The purpose of the FANCE Gene Fanconi Anemia Type E NGS Genetic Test is to detect mutations in the F...
FANCD2 Gene Fanconi anemia type D2 NGS Genetic Test
The primary purpose of the FANCD2 Gene Fanconi Anemia Type D2 NGS Genetic Test is to accurately diag...
FANCB Gene Fanconi anemia type B NGS Genetic Test
The purpose of the FANCB Gene Fanconi Anemia Type B NGS Genetic Test is to identify pathogenic or li...
FANCG Gene Fanconi anemia type G NGS Genetic Test
The primary purpose of the FANCG Gene Fanconi Anemia Type G NGS Genetic Test is to detect pathogenic...
FANCM Gene Fanconi anemia type M NGS Genetic Test
To diagnose Fanconi anemia type M by identifying pathogenic mutations in the FANCM gene using NGS te...
DPAGT1 Gene Glycosylation disorder type 1J NGS Genetic Test
To diagnose DPAGT1 Gene Glycosylation Disorder Type 1J through comprehensive genetic analysis using...
UCP2 Gene Hyperinsulinism, UCP2 related NGS Genetic Test
The purpose of this test is to detect mutations in the UCP2 gene that cause hyperinsulinism. It aids...
LMNA Gene Lipodystrophy type 2, familial partial NGS Genetic Test
To identify mutations in the LMNA gene associated with familial partial lipodystrophy type 2, aiding...
HNF1A Gene Maturity-onset diabetes of the young type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the HNF1A gene to confirm a diagnosis of Maturity...
RFX6 Gene Maturity-onset diabetes of the young, RFX6 related NGS Genetic Test
The purpose of the RFX6 Gene MODY NGS Genetic Test is to identify pathogenic or likely pathogenic mu...
COL4A5 Gene Alport syndrome, X-Linked NGS Genetic Test
To detect mutations in the COL4A5 gene for accurate diagnosis of X-linked Alport syndrome, enabling...
COL4A4 Gene Alport syndrome, autosomal recessive NGS Genetic Test
To identify mutations in the COL4A4 gene associated with autosomal recessive Alport Syndrome for dia...
PEX1 Gene Heimler syndrome type 1 NGS Genetic Test
The purpose of the PEX1 Gene Heimler Syndrome Type 1 NGS Genetic Test is to identify pathogenic or l...
VIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic Test
The purpose of the VIPAS39 Gene ARC Syndrome NGS Genetic Test is to identify pathogenic mutations in...
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 identify pathogenic or likely pathogenic varian...
PTPN14 Gene Choanal atresia and lymphedema NGS Genetic Test
The purpose of the PTPN14 Gene Choanal Atresia and Lymphedema NGS Genetic Test is to identify pathog...
PLEC Gene Epidermolysis bullosa simplex with pyloric atresia NGS Genetic Test
To identify mutations in the PLEC gene for diagnosing epidermolysis bullosa simplex with pyloric atr...
ELOVL4 Gene Ichthyosis, spastic quadriplegia, and mental retardation NGS Genetic Test
To diagnose ELOVL4 Gene Ichthyosis, Spastic Quadriplegia, and Mental Retardation through genetic ana...
ALOX12B Gene Ichthyosis, congenital, autosomal recessive, type 2 NGS Genetic Test
The purpose of the ALOX12B Gene Ichthyosis NGS Genetic Test is to identify pathogenic mutations in t...
FLT4 Gene Lymphedema, hereditary, type 1A NGS Genetic Test
The purpose of the FLT4 Gene Lymphedema NGS Genetic Test is to diagnose hereditary lymphedema type 1...
ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ZMPSTE24 gene to confirm a diagn...
MKKS Gene McKusick-Kaufman syndrome NGS Genetic Test
To diagnose McKusick-Kaufman Syndrome by identifying mutations in the MKKS gene using NGS technology...
AP1S1 Gene MEDNIK syndrome NGS Genetic Test
To diagnose MEDNIK syndrome by detecting pathogenic mutations in the AP1S1 gene using NGS technology...
CYP2R1 Gene Rickets, vitamin D 25-hydroxylation-deficient, type 1B NGS Genetic Test
To diagnose CYP2R1 gene rickets by identifying mutations in the CYP2R1 gene through next-generation...
SLC39A13 Gene Spondylocheirodysplasia, Ehlers-Danlos syndrome-like NGS Genetic Test
To identify mutations in the SLC39A13 gene associated with Spondylocheirodysplasia and Ehlers-Danlos...
BRAF Gene Cardiofaciocutaneous syndrome NGS Genetic Test
To identify mutations in the BRAF gene for accurate diagnosis of Cardiofaciocutaneous syndrome, enab...
KRAS Gene Cardiofaciocutaneous syndrome NGS Genetic Test
To diagnose Cardiofaciocutaneous Syndrome by identifying mutations in the KRAS gene and other associ...
MKKS Gene McKusick-Kaufman syndrome NGS Genetic Test
To diagnose McKusick-Kaufman Syndrome by identifying mutations in the MKKS gene using NGS technology...
LZTFL1 Gene Bardet-Biedl syndrome, LZTFL1 related NGS Genetic Test
To confirm diagnosis of Bardet-Biedl Syndrome by identifying mutations in the LZTFL1 gene, enabling...
ICK Gene Endocrine-cerebroosteodysplasia NGS Genetic Test
The purpose of the ICK Gene Endocrine-Cerebroosteodysplasia NGS Genetic Test is to detect mutations...
ESR1 Gene Estrogen resistance NGS Genetic Test
The purpose of the ESR1 Gene Estrogen Resistance NGS Genetic Test is to detect mutations in the ESR1...
TRMU Gene Liver failure transient infantile NGS Genetic Test
The purpose of the TRMU Gene NGS Genetic Test is to detect mutations in the TRMU gene that cause tra...
WNT4 Gene SERKAL syndrome NGS Genetic Test
The purpose of the WNT4 Gene SERKAL Syndrome NGS Genetic Test is to detect mutations in the WNT4 gen...
RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome NGS Genetic Test
To identify mutations in the RBM8A gene for diagnosis and management of thrombocytopenia-absent-radi...
LRP2 Gene Donnai-Barrow syndrome NGS Genetic Test
To identify mutations in the LRP2 gene for diagnosis of Donnai-Barrow Syndrome, aiding in early mana...
ERCC4 Gene Fanconi anemia, complementation group Q NGS Genetic Test
To diagnose ERCC4 Gene Fanconi Anemia by identifying pathogenic mutations in the ERCC4 gene, assess...
TP63 Gene Rapp-Hodgkin syndrome NGS Genetic Test
The purpose of the TP63 Gene Rapp-Hodgkin Syndrome NGS Genetic Test is to identify mutations in the...
Achondroplasia Mutation Analysis (FGFR3 Gene G1138A, G1138C)
The purpose of the Achondroplasia Mutation Analysis test is to confirm the diagnosis of achondroplas...
Chromosome Breakage Syndrome
The purpose of Chromosome Breakage Syndrome testing is to identify mutations in genes involved in DN...
Complete Inherited Disease Panel
The purpose of the Complete Inherited Disease Panel is to diagnose inherited diseases by identifying...
Factor V Mutation Screening (F5 - G1691A)
The purpose of Factor V Mutation Screening is to detect the G1691A mutation in the Factor V gene, wh...
Fragile X Syndrome (FMR1) Detection by PCR
The purpose of this test is to diagnose Fragile X Syndrome by detecting mutations or expansions in t...
Hemochromatosis Common Mutation Analysis in HFE Gene (H63D, S61C & C282Y)
The purpose of the Hemochromatosis Common Mutation Analysis in HFE Gene (H63D, S61C & C282Y) is to i...
Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C)
The MTHFR gene test is performed to identify genetic variants that may impair folate metabolism and...
Prader-Willi Syndrome (FISH)
The purpose of the Prader-Willi Syndrome (FISH) test is to diagnose PWS by detecting deletions or ab...
QF PCR[Any One Marker]
The purpose of QF PCR testing is to diagnose genetic disorders by detecting specific genetic markers...
Targeted Mutation Analysis (More Than 2 Mutations)
To detect the presence of specific genetic mutations associated with hereditary disorders, aiding in...
B. Pseudomalie (RNA Detection) Qualitative Test
To diagnose B. Pseudomalie by detecting RNA fragments associated with BPIFB1 gene mutations, enablin...
CCL3-L1 Gene Load Test
The purpose of the CCL3-L1 Gene Load Test is to assess the genetic risk for diseases linked to the C...
Genotyping by Sequencing-96 Samples
Genotyping by sequencing is used to determine genetic variation in organisms for research and diagno...
ChIP Sequencing
ChIP sequencing is used to study protein-DNA interactions, identify genomic locations of DNA-binding...
Human Bisulfite Sequencing
The purpose of human bisulfite sequencing is to detect and quantify DNA methylation levels across th...
MeDIP Sequencing
The primary purpose of MeDIP sequencing is to identify and analyze DNA methylation patterns that are...
Amplicon Library Preparation
The purpose of Amplicon Library Preparation is to enable targeted sequencing of specific genomic reg...
DNA Short Insert Library Preparation
The purpose of DNA short insert library preparation is to prepare DNA samples for sequencing, allowi...
Eukaryotic mRNA Sequencing-Ultra Low Input
The purpose of eukaryotic mRNA sequencing is to analyze gene expression profiles to identify active...
Eukaryotic SmallRNA Sequencing
The purpose of Eukaryotic SmallRNA Sequencing is to identify small RNA molecules associated with dis...
Metatranscriptome Sequencing and Analysis
The primary purpose of metatranscriptome sequencing is to analyze the active gene expression in a sa...
Eukaryotic Stranded mRNA Library Preparation
The purpose of Eukaryotic Stranded mRNA Library Preparation is to generate high-quality sequencing l...
PIK3CA Mutation Analysis
The purpose of PIK3CA mutation analysis is to identify genetic changes in the PIK3CA gene for diagno...
Sanger Sequencing: Single Variant Test
The primary purpose of this test is to detect or confirm a specific genetic variant in an individual...
Sickle Cell Anemia Mutation Detection Test
The purpose of this test is to detect the specific genetic mutation (GAG>GTG at codon 6 of the HBB g...
Warfarin Sensitivity Detection Test
This test detects genetic variants that affect warfarin metabolism and sensitivity. It is used to id...
GALC Gene Krabbe disease NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the GALC gene that are responsi...
XK Gene McLeod syndrome with or without chronic granulomatous disease NGS Genetic Test
To detect pathogenic variants in the XK gene in individuals with clinical features of McLeod syndrom...
LAS1L Gene Wilson-Turner syndrome NGS Genetic Test
The purpose of the LAS1L Gene Wilson-Turner Syndrome NGS Genetic Test is to diagnose Wilson-Turner s...
PALB2 Gene Fanconi anemia type N NGS Genetic Test
The purpose of this test is to detect mutations in the PALB2 gene to diagnose Fanconi anemia type N,...
LRRC6 Gene Primary ciliary dyskinesia type 19 NGS Genetic Test
To diagnose Primary Ciliary Dyskinesia Type 19 by detecting pathogenic mutations in the LRRC6 gene u...
SPAG1 Gene Primary ciliary dyskinesia type 28 NGS Genetic Test
To diagnose primary ciliary dyskinesia type 28 by identifying pathogenic mutations in the SPAG1 gene...
HYDIN Gene Primary ciliary dyskinesia type 5 NGS Genetic Test
The purpose of the HYDIN Gene Primary Ciliary Dyskinesia Type 5 NGS Genetic Test is to identify path...
WFS1 Gene Wolfram-like syndrome, autosomal dominant NGS Genetic Test
The purpose of this test is to detect mutations in the WFS1 gene to confirm a diagnosis of Wolfram-l...
COLEC11 Gene 3MC syndrome type 2 NGS Genetic Test
To diagnose 3MC syndrome type 2 by detecting pathogenic mutations in the COLEC11 gene using NGS tech...
ARHGAP31 Gene Adams-Oliver syndrome type 1 NGS Genetic Test
To diagnose Adams-Oliver Syndrome Type 1 by identifying mutations in the ARHGAP31 gene using next-ge...
LRMDA Gene Albinism, oculocutaneous type 7 NGS Genetic Test
To diagnose Oculocutaneous Albinism Type 7 (OCA7) by identifying pathogenic mutations in the LRMDA g...
MYH3 Gene Arthrogryposis, distal, type 2A NGS Genetic Test
To detect mutations in the MYH3 gene for diagnosis of distal arthrogryposis type 2A, enabling early...
TNNI2 Gene Arthrogryposis, distal, type 2B NGS Genetic Test
The purpose of this test is to identify mutations in the TNNI2 gene that cause distal arthrogryposis...
RAD21 Gene Cornelia de Lange syndrome type 4 NGS Genetic Test
To identify mutations in the RAD21 gene for accurate diagnosis of Cornelia de Lange Syndrome Type 4,...
TMCO1 Gene Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the TMCO1 gene to confirm a diagnosis...
TERT Gene Dyskeratosis congenita, autosomal recessive type 4/ autosomal dominant type 2 NGS Genetic Test
To diagnose dyskeratosis congenita by identifying pathogenic mutations in the TERT gene using next-g...
DKC1 Gene Dyskeratosis congenita, X-linked NGS Genetic Test
To diagnose X-linked Dyskeratosis Congenita by identifying mutations in the DKC1 gene using NGS tech...
COX4I2 Gene Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis NGS Genetic Test
To diagnose mutations in the COX4I2 gene that cause exocrine pancreatic insufficiency, dyserythropoi...
SRCAP Gene Floating-Harbor syndrome NGS Genetic Test
The purpose of the SRCAP Gene Floating-Harbor syndrome NGS Genetic Test is to detect mutations in th...
SH3PXD2B Gene Frank-ter Haar syndrome NGS Genetic Test
To identify pathogenic mutations in the SH3PXD2B gene for the diagnosis of Frank-ter Haar syndrome,...
TBXAS1 Gene Ghosal hematodiaphyseal syndrome NGS Genetic Test
To diagnose Ghosal Hematodiaphyseal Syndrome by detecting mutations in the TBXAS1 gene using NGS tec...
SLCO2A1 Gene Hypertrophic osteoarthropathy type 2 NGS Genetic Test
To detect mutations in the SLCO2A1 gene for the diagnosis of Hypertrophic Osteoarthropathy Type 2.
DMP1 Gene Hypophosphatemic rickets, autosomal recessive type 1 NGS Genetic Test
To identify mutations in the DMP1 gene for diagnosis of autosomal recessive hypophosphatemic rickets...
DNMT3B Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 NGS Genetic Test
To diagnose Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 (ICF1) by iden...
ITGA3 Gene Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital NGS Genetic Test
To detect mutations in the ITGA3 gene associated with interstitial lung disease, nephrotic syndrome,...
LIG4 Gene LIG4 syndrome NGS Genetic Test
The purpose of the LIG4 Gene NGS Genetic Test is to diagnose LIG4 syndrome by identifying mutations...
CHRNA1 Gene Multiple pterygium syndrome lethal type NGS Genetic Test
The purpose of the CHRNA1 Gene NGS Genetic Test is to detect pathogenic mutations in the CHRNA1 gene...
CHRND Gene Multiple pterygium syndrome lethal type NGS Genetic Test
The purpose of this test is to diagnose Multiple Pterygium Syndrome Lethal Type by identifying mutat...
LMX1B Gene Nail-Patella syndrome NGS Genetic Test
To detect mutations in the LMX1B gene for accurate diagnosis of Nail-Patella Syndrome, enabling earl...
FECH Gene Protoporphyria, erythropoietic type 1 NGS Genetic Test
To diagnose Erythropoietic Protoporphyria by identifying mutations in the FECH gene using Next-Gener...
ABCC6 Gene Pseudoxanthoma elasticum NGS Genetic Test
To detect mutations in the ABCC6 gene for the diagnosis of Pseudoxanthoma elasticum, enabling early...
CHRNG Gene Pterygium syndrome NGS Genetic Test
To diagnose Pterygium Syndrome by identifying mutations in the CHRNG gene using Next Generation Sequ...
PARN Gene Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4 NGS Genetic Test
The purpose of the PARN Gene NGS Genetic Test is to detect mutations in the PARN gene that cause pul...
MESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2 NGS Genetic Test
To diagnose mutations in the MESP2 gene causing spondylocostal dysostosis type 2, enabling accurate...
DLX3 Gene Trichodontoosseous syndrome NGS Genetic Test
The purpose of this test is to diagnose Trichodontoosseous syndrome by detecting mutations in the DL...
THSD1 Gene Thrombospondin Type 1 domain-containing protein 1 NGS Genetic Test
The purpose of the THSD1 Gene NGS Genetic Test is to identify pathogenic mutations in the THSD1 gene...
TRPS1 Gene Trichorhinophalangeal syndrome type 1 NGS Genetic Test
To identify mutations in the TRPS1 gene for the diagnosis of Trichorhinophalangeal syndrome type 1.
ERCC3 Gene Trichothiodystrophy NGS Genetic Test
To detect mutations in the ERCC3 gene for the diagnosis of Trichothiodystrophy, aiding in clinical m...
PAX3 Gene Waardenburg syndrome type 1 NGS Genetic Test
The purpose of the PAX3 Gene Waardenburg Syndrome Type 1 NGS Genetic Test is to identify pathogenic...
CBS Gene Homocystinuria due to cystathionine beta-synthase deficiency NGS Genetic Test
The purpose of this test is to detect mutations in the CBS gene that cause homocystinuria, enabling...
STIM1 Gene Stormorken syndrome NGS Genetic Test
To detect mutations in the STIM1 gene for the diagnosis of Stormorken syndrome, aiding in clinical m...
MKS1 Gene Bardet-Biedl syndrome type 13 NGS Genetic Test
The purpose of this test is to identify mutations in the MKS1 gene that cause Bardet-Biedl Syndrome...
BBS4 Gene Bardet-Biedl syndrome type 4 NGS Genetic Test
To diagnose Bardet-Biedl Syndrome type 4 by detecting pathogenic mutations in the BBS4 gene using NG...
ARL6 Gene Bardet-Biedl syndrome type 3 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ARL6 gene to diagnose Bardet-Bie...
BBS7 Gene Bardet-Biedl syndrome type 7 NGS Genetic Test
To identify mutations or alterations in the BBS7 gene for the diagnosis of Bardet-Biedl syndrome typ...
TTC8 Gene Bardet-Biedl syndrome type 8 NGS Genetic Test
To detect mutations in the TTC8 gene for diagnosis of Bardet-Biedl Syndrome Type 8.
MKKS Gene Bardet-Biedl syndrome type 6 NGS Genetic Test
To identify mutations in the MKKS gene that cause Bardet-Biedl Syndrome Type 6, enabling accurate di...
SCO1 Gene Hepatic failure, early onset, and neurologic disorder NGS Genetic Test
To detect mutations in the SCO1 gene for definitive diagnosis of hepatic failure and neurologic diso...
SP110 Gene Hepatic venoocclusive disease with immunodeficiency NGS Genetic Test
To diagnose Hepatic Venoocclusive Disease with Immunodeficiency (VODI) by detecting pathogenic mutat...
UGT1A1 Gene Hyperbilirubinemia, familial transient neonatal NGS Genetic Test
To diagnose familial transient neonatal hyperbilirubinemia caused by UGT1A1 gene mutations, confirm...
SARS2 Gene Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis NGS Genetic Test
The purpose of this test is to identify mutations in the SARS2 gene that may cause hyperuricemia, pu...
GATA3 Gene Hypoparathyroidism, sensorineural deafness, and renal dysplasia NGS Genetic Test
The purpose of the GATA3 Gene NGS Genetic Test is to diagnose mutations in the GATA3 gene that cause...
SLC7A7 Gene LYSINURIC PROTEIN INTOLERANCE NGS Genetic Test
To diagnose Lysinuric Protein Intolerance by identifying mutations in the SLC7A7 gene using NGS tech...
B9D2 Gene Meckel syndrome type 10 NGS Genetic Test
To diagnose Meckel syndrome type 10 by identifying pathogenic mutations in the B9D2 gene using Next...
TMEM67 Gene Meckel syndrome type 3 NGS Genetic Test
The purpose of this test is to identify mutations in the TMEM67 gene to diagnose Meckel syndrome typ...
SAMD9 Gene Mirage syndrome NGS Genetic Test
To diagnose Mirage Syndrome by detecting pathogenic mutations in the SAMD9 gene using NGS technology...
SLC34A1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 1 NGS Genetic Test
To diagnose Hypophosphatemic Nephrolithiasis/Osteoporosis, Type 1 (HHRH1) by detecting mutations in...
CRB2 Gene Ventriculomegaly with cystic kidney disease NGS Genetic Test
To diagnose ventriculomegaly with cystic kidney disease caused by CRB2 gene mutations through accura...
APOE Gene Sea-blue histiocyte disease NGS Genetic Test
The purpose of this test is to diagnose sea-blue histiocyte disease by detecting mutations in the AP...
BCS1L Gene Bjornstad syndrome NGS Genetic Test
To diagnose Bjornstad syndrome by identifying mutations in the BCS1L gene using NGS technology.
ASXL1 Gene Bohring-Opitz syndrome NGS Genetic Test
To diagnose Bohring-Opitz Syndrome by detecting pathogenic mutations in the ASXL1 gene using NGS tec...
GDF5 Gene Brachydactyly type A1C NGS Genetic Test
The purpose of the GDF5 Gene Brachydactyly type A1C NGS Genetic Test is to identify mutations in the...
TGFB1 Gene Camurati-Engelmann disease NGS Genetic Test
The purpose of this test is to diagnose Camurati-Engelmann disease by detecting pathogenic mutations...
BDNF Gene Central hypoventilation syndrome, congenital NGS Genetic Test
To diagnose congenital central hypoventilation syndrome by identifying pathogenic mutations in the B...
MECP2 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
To identify mutations in the MECP2 gene for accurate diagnosis of Central Hypoventilation Syndrome,...
ERCC1 Gene Cerebrooculofacioskeletal syndrome type 4 NGS Genetic Test
The purpose of this test is to diagnose Cerebrooculofacioskeletal syndrome type 4 (COFS4) by detecti...
ERCC6 Gene Cerebrooculofacioskeletal syndrome type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the ERCC6 gene that cause Cerebrooculofacioskel...
PRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic Test
To detect mutations in the PRKD1 gene associated with congenital heart defects and ectodermal dyspla...
WDR19 Gene Cranioectodermal dysplasia type 4 NGS Genetic Test
The purpose of this test is to identify mutations in the WDR19 gene to diagnose Cranioectodermal Dys...
Cystic Fibrosis Mutation Screening (CFTR - Del 508, G551D/R553X, G542X)
The purpose of this test is to identify the presence of specific CFTR gene mutations associated with...
Sibling DNA Test
The primary purpose of a Sibling DNA Test is to establish the biological relationship between siblin...
Avuncular (Aunt/Uncle) DNA Test
The primary purpose of the avuncular DNA test is to establish or exclude a biological relationship b...
Grandparent DNA Test
The purpose of the Grandparent DNA Test is to establish a biological link between a grandparent and...
Hospital Baby Exchange Maternity DNA Test
The purpose of the Maternity DNA Test is to provide scientific certainty regarding biological matern...
Single Profiling DNA Test
The primary purpose of the Single Profiling DNA Test is to generate a unique DNA profile for an indi...
Whole Exome Sequencing + Chromosomal Microarray
The purpose of combining Whole Exome Sequencing and Chromosomal Microarray is to identify the underl...
DNA Extraction from Solid Tissue - Plant
The primary purpose of DNA extraction from solid plant tissue is to obtain pure, intact DNA suitable...
DNA Extraction from Blood - EDTA
The primary purpose of DNA extraction from blood is to isolate high-quality genomic DNA for genetic...
DNA Extraction from Cultured Cells
The primary purpose of DNA extraction from cultured cells is to obtain high-quality genomic DNA for...
DNA Extraction from Insect
The primary purpose of DNA extraction from insects is to obtain pure DNA for various applications. T...
DNA Extraction from Swab or Filter
The primary purpose of DNA extraction is to obtain pure, high-quality DNA from a biological sample f...
DNA Extraction from Plasma or Serum
The primary purpose of DNA extraction from plasma or serum is to obtain purified DNA for molecular t...
DNA Extraction from Saliva
The primary purpose of DNA extraction from saliva is to isolate genetic material for subsequent anal...
DNA Extraction from Milk
The primary purpose of DNA extraction from milk is to obtain pure, high-molecular-weight DNA for gen...
DNA QC and Quantitation - Nanodrop
The primary purpose of DNA QC and Quantitation by Nanodrop is to assess the concentration and purity...
DNA QC and Quantitation - Qubit
The primary purpose of DNA QC and quantitation is to assess the quality and quantity of DNA in a sam...
Cattle Genome Sequencing and Variant Calling-30X
The primary purpose of Cattle Genome Sequencing and Variant Calling is to identify genetic mutations...
Human Genome Sequencing and Variant Calling-30X
The primary purpose of Human Genome Sequencing and Variant Calling is to identify genetic variants t...
Cattle Genome Sequencing and Variant Calling-10X
The primary purpose of Cattle Genome Sequencing and Variant Calling is to provide a complete genetic...
Human Exome Sequencing and Analysis - SureSelect V6
The primary purpose of Human Exome Sequencing is to identify the genetic cause of a suspected inheri...
ddRAD Sequencing and Primary Analysis-96 Samples
The purpose of ddRAD sequencing and primary analysis is to identify genetic variants across the geno...
Human Bisulfite Sequencing and Analysis
The primary purpose of human bisulfite sequencing is to identify and quantify DNA methylation change...
ChIP Sequencing and Analysis
The purpose of ChIP sequencing is to identify the specific DNA regions where proteins of interest bi...
SELEX Sequencing and Analysis
The purpose of SELEX sequencing and analysis is to identify and characterize nucleic acid aptamers t...
Aptamer Sequencing and Analysis
The purpose of aptamer sequencing and analysis is to determine the nucleotide sequences of aptamers...
MeDIP Sequencing and Analysis
The purpose of MeDIP sequencing is to detect and quantify DNA methylation patterns across the genome...
Hi-C Sequencing and Analysis
The purpose of Hi-C sequencing is to map the 3D architecture of the genome, revealing how chromatin...
ATAC Sequencing and Analysis
The primary purpose of ATAC sequencing is to assess chromatin accessibility, which reflects the regu...
Cattle Genome Sequencing-10X
The primary purpose of cattle genome sequencing is to provide a complete genetic profile of an indiv...
Bisulfite Sequencing Library Preparation
The purpose of bisulfite sequencing library preparation is to generate a sequencing-ready library th...
ChIP-Seq Library Preparation
The purpose of ChIP-Seq library preparation is to generate a sequencing-ready library from DNA fragm...
MeDIP-Seq Library Preparation
The purpose of MeDIP-Seq library preparation is to generate a sequencing-ready library that accurate...
Vertebrate Genome Reference Based Data Analysis-Illumina
The purpose of this analysis is to detect genetic variations in vertebrate genomes that may be assoc...
Chloroplast Genome Sequencing Data Analysis
The purpose of chloroplast genome sequencing data analysis is to identify and characterize genetic v...
Genotyping by Sequencing Primary Data Analysis-96 Samples
The purpose of this test is to perform primary data analysis on genotyping-by-sequencing data from 9...
Bisulfite Sequencing Data Analysis
The purpose of bisulfite sequencing data analysis is to detect and quantify DNA methylation patterns...
ChIP Sequencing Data Analysis
The purpose of ChIP-seq data analysis is to identify genome-wide binding sites of proteins of intere...
MeDIP Sequencing Data Analysis
The purpose of MeDIP sequencing data analysis is to detect and quantify DNA methylation patterns acr...
SELEX Sequencing Data Analysis
The purpose of SELEX sequencing data analysis is to identify and characterize aptamer sequences that...
Aptamer Sequencing Data Analysis
The primary purpose of Aptamer Sequencing Data Analysis is to decode the vast amount of data generat...
Hi-C Sequencing Data Analysis
The purpose of Hi-C sequencing data analysis is to map the 3D architecture of the genome and detect...
RNA Extraction from Solid Tissue- Animal
The primary purpose of RNA extraction from solid tissue is to isolate pure, intact RNA for downstrea...
RNA Extraction from Solid Tissue- Plant
The primary purpose of RNA extraction from solid plant tissue is to isolate high-quality RNA for dow...
ATAC Sequencing Data Analysis
The purpose of ATAC sequencing data analysis is to identify regions of open chromatin that are acces...
RNA Extraction from Blood-Paxgene/Tempus
The primary purpose of RNA extraction from blood is to isolate total RNA for molecular analysis. Thi...
RNA Extraction from Plasma or Serum
The primary purpose of RNA extraction from plasma or serum is to isolate high-quality RNA for downst...
RNA QC and Quantitation
The primary purpose of RNA QC and quantitation is to evaluate the quality and quantity of RNA sample...
RNA Extraction from Milk
The purpose of RNA extraction from milk is to obtain high-quality RNA for various applications, incl...
Eukaryotic Stranded mRNA Sequencing and Reference Based Analysis
The purpose of this test is to analyze the gene expression profile of eukaryotic cells. It helps in...
Eukaryotic mRNA Sequencing and Reference Based Analysis
The purpose of eukaryotic mRNA sequencing and reference-based analysis is to identify genetic variat...
Eukaryotic mRNA Sequencing and Reference Based Analysis-Ultra Low Input
The purpose of this test is to analyze the expression levels of thousands of genes simultaneously. B...
Eukaryotic mRNA Sequencing and Reference Based Analysis-Low Input
The primary purpose of this test is to identify genetic variations and expression abnormalities that...
Eukaryotic mRNA Sequencing and De Novo Analysis
The primary purpose of eukaryotic mRNA sequencing and de novo analysis is to provide a comprehensive...
Eukaryotic SmallRNA Sequencing and Analysis
The primary purpose of eukaryotic smallRNA sequencing is to comprehensively profile small RNA molecu...
Eukaryotic mRNA Sequencing Reference Based Data Analysis
The primary purpose of this test is to analyze mRNA sequences from a patient sample to identify gene...
Eukaryotic mRNA Sequencing De Novo Data Analysis
The purpose of eukaryotic mRNA sequencing de novo data analysis is to determine the complete transcr...
Eukaryotic SmallRNA Sequencing Data Analysis
The purpose of eukaryotic small RNA sequencing data analysis is to accurately identify and quantify...
2x250 Miseq Sequencing-Flow Cell
The primary purpose of this test is to provide high-throughput DNA sequencing for clinical and resea...
Molecular Karyotyping for Amniotic Fluid Test
The purpose of molecular karyotyping for amniotic fluid is to detect chromosomal abnormalities in th...