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DNA Labs India

General Hematology

DNA Labs India | Diagnostic Tests

General Hematology

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

Factor V Leiden Mutation Analysis Test

The purpose of the Factor V Leiden Mutation Analysis Test is to identify genetic mutations in the Fa...

🩸Sample: Whole blood
TAT: 48-72 hours

FIP1L1-PGDFRA Gene Rearrangement Detection Test

The purpose of this test is to detect the FIP1L1-PGDFRA gene rearrangement to confirm diagnosis of h...

🩸Sample: Whole Blood or Bone Marrow
TAT: 12 days

G-6-PD Quantitative Test

This assay is specifically useful for the evaluation of individuals with Coombs-negative non-spheroc...

🩸Sample: Whole blood
TAT: Same day

MPL (Myeloproliferative Leukemia) Gene Mutation Test

To detect mutations in the MPL gene for the diagnosis of myeloproliferative neoplasms and related bl...

🩸Sample: Whole Blood
TAT: 2 days

Thalassemia Alpha Mutation Analysis Test

The primary purpose of the Thalassemia Alpha Mutation Analysis Test is to detect specific mutations...

🩸Sample: Whole Blood
TAT: Sample by Monday 9 AM; Report by Friday

Thalassemia Profile Test

The primary purpose of the Thalassemia Profile Test is to identify carriers of thalassemia (thalasse...

🩸Sample: EDTA Whole Blood
TAT: 24–48 hours

CDAN1 Gene Anemia dyserythropoietic type 1A NGS Genetic Test

To identify pathogenic mutations in the CDAN1 gene for the diagnosis of Congenital Dyserythropoietic...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

F8 Gene Hemophilia A NGS Genetic Test

To detect mutations in the F8 gene that cause hemophilia A, aiding in diagnosis, carrier testing, an...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

MYH9 Gene Epstein syndrome NGS Genetic Test

To diagnose Epstein Syndrome by detecting mutations in the MYH9 gene using NGS technology, aiding in...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

SLC4A1 Gene Ovalocytosis NGS Genetic Test

To identify pathogenic mutations in the SLC4A1 gene associated with ovalocytosis, aiding in diagnosi...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

ACTN1 Gene Bleeding disorder, platelet-type 15 NGS Genetic Test

To diagnose ACTN1 gene bleeding disorder, platelet-type 15 using advanced NGS technology, enabling a...

🩸Sample: Blood
TAT: 3 to 4 Weeks

RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis NGS Genetic Test

The purpose of this test is to diagnose Diamond-Blackfan Anemia Type 15 caused by pathogenic variant...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

HBB Gene Delta-beta thalassemia NGS Genetic Test

The purpose of this test is to diagnose Delta-beta thalassemia by detecting pathogenic mutations in...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

HBG2 Gene Cyanosis, transient neonatal NGS Genetic Test

The purpose of this test is to identify mutations in the HBG2 gene that cause transient neonatal cya...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

RPL26 Gene Diamond-Blackfan anemia type 11 NGS Genetic Test

To diagnose Diamond-Blackfan anemia type 11 by identifying mutations in the RPL26 gene using NGS tec...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

HP Gene Anhaptoglobinemia NGS Genetic Test

The purpose of the HP Gene Anhaptoglobinemia NGS Genetic Test is to diagnose anhaptoglobinemia by de...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

RPS19 Gene Diamond-Blackfan anemia type 1 NGS Genetic Test

To diagnose Diamond-Blackfan anemia type 1 by identifying mutations in the RPS19 gene and to identif...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 weeks

RPS24 Gene Diamond-blackfan anemia type 3 NGS Genetic Test

The purpose of this test is to identify pathogenic mutations in the RPS24 gene responsible for Diamo...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

EPAS1 Gene Erythrocytosis, familial type 4 NGS Genetic Test

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

TSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic Test

To confirm the diagnosis of Diamond-Blackfan anemia type 14 caused by TSR2 gene mutations, especiall...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

RPS17 Gene Diamond-Blackfan anemia type 4 NGS Genetic Test

The purpose of the RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic Test is to detect mutations...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

F2 Gene Dysprothrombinemia NGS Genetic Test

The purpose of the F2 Gene Dysprothrombinemia NGS Genetic Test is to detect mutations in the F2 gene...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

C15orf41 Gene Dyserythropoietic anemia, congenital, type 1B NGS Genetic Test

To diagnose C15orf41 gene mutations causing congenital dyserythropoietic anemia type 1B through next...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

F10 Gene Factor X deficiency NGS Genetic Test

To diagnose Factor X deficiency by detecting mutations in the F10 gene using NGS technology, providi...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

EGLN1 Gene Erythrocytosis, familial type 3 NGS Genetic Test

The purpose of the EGLN1 Gene Erythrocytosis, Familial Type 3 NGS Genetic Test is to detect mutation...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 weeks

EPOR Gene Erythrocytosis, familial type 1 NGS Genetic Test

To diagnose familial erythrocytosis type 1 by identifying mutations in the EPOR gene using Next Gene...

🩸Sample: Blood, Extracted DNA, or FTA Card
TAT: 3 to 4 Weeks

KIF23 Gene Dyserythropoietic anemia, congenital, type 3 NGS Genetic Test

To diagnose dyserythropoietic anemia, congenital, type 3 by detecting mutations in the KIF23 gene us...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

G6PD Gene Favism, susceptibility to NGS Genetic Test

The purpose of the G6PD Gene Favism NGS Genetic Test is to identify mutations in the G6PD gene that...

🩸Sample: Blood or Extracted DNA or One Drop Blood on FTA Card
TAT: 3 to 4 Weeks

KLF1 Gene Dyserythropoietic anemia, congenital, type 4 NGS Genetic Test

To confirm the diagnosis of Congenital Dyserythropoietic Anemia Type IV (CDA IV) by identifying muta...

🩸Sample: Blood, Extracted DNA, or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

NCF2 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 NGS Genetic Test

To diagnose Chronic Granulomatous Disease type 2 by detecting mutations in the NCF2 gene using NGS t...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

CYCS Gene Thrombocytopenia type 4 NGS Genetic Test

To diagnose CYCS Gene Thrombocytopenia Type 4 by detecting mutations in the CYCS gene using NGS tech...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

ITGB3 Gene Thrombocytopenia, neonatal alloimmune NGS Genetic Test

To identify pathogenic mutations in the ITGB3 gene responsible for thrombocytopenia, enabling accura...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

ETV6 Gene Thrombocytopenia type 5 NGS Genetic Test

The primary purpose of the ETV6 Gene Thrombocytopenia Type 5 NGS Genetic Test is to identify pathoge...

🩸Sample: Blood or Extracted DNA or One Drop Blood on FTA Card
TAT: 3 to 4 Weeks

F9 Gene Thrombophilia, X-linked, due to factor IX defect NGS Genetic Test

The purpose of the F9 Gene Thrombophilia NGS Genetic Test is to diagnose genetic mutations in the F9...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

ANKRD26 Gene Thrombocytopenia type 2 NGS Genetic Test

The purpose of the ANKRD26 Gene Thrombocytopenia Type 2 NGS Genetic Test is to identify mutations in...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

GGCX Gene Vitamin K-dependent clotting factors combined deficiency type 1 NGS Genetic Test

The purpose of this test is to diagnose GGCX gene mutations responsible for vitamin K-dependent clot...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

ADAMTS13 Gene Thrombotic thrombocytopenic purpura NGS Genetic Test

The purpose of the ADAMTS13 Gene NGS Genetic Test is to identify mutations in the ADAMTS13 gene that...

🩸Sample: Blood
TAT: 3 to 4 Weeks

JAK2 Gene Thrombocytosis, familial, JAK2 related NGS Genetic Test

The purpose of the JAK2 Gene Thrombocytosis NGS Genetic Test is to detect mutations in the JAK2 gene...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

ITGA2B Gene Thrombocytopenia, neonatal alloimmune NGS Genetic Test

To identify mutations in the ITGA2B gene that cause neonatal alloimmune thrombocytopenia, facilitati...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3-4 weeks

GATA1 Gene Thrombocytopenia, X-linked NGS Genetic Test

To diagnose GATA1 Gene Thrombocytopenia, X-linked through genetic analysis, enabling early intervent...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

F2 Gene Thrombophilia due to thrombin defect NGS Genetic Test

The purpose of this test is to diagnose genetic thrombophilia caused by F2 gene mutations, assess th...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

WAS Gene Thrombocytopenia, X-linked, intermittent NGS Genetic Test

To identify mutations in the WAS gene for diagnosis of X-linked thrombocytopenia and guide treatment...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

TBXAS1 Gene Thromboxane synthase deficiency NGS Genetic Test

The purpose of the TBXAS1 Gene Thromboxane Synthase Deficiency NGS Genetic Test is to identify mutat...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

TSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic Test

The purpose of this test is to diagnose Diamond-Blackfan Anemia Type 14 caused by TSR2 gene mutation...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

CALR Gene CALR, selective sequencing of exon 9 NGS Genetic Test

To detect mutations in exon 9 of the CALR gene, which are associated with myeloproliferative neoplas...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

MPL Gene MPL, selective sequencing of exon 10 NGS Genetic Test

To identify mutations in the MPL gene, particularly in exon 10, for the diagnosis of blood disorders...

🩸Sample: Blood, Extracted DNA, or FTA Card
TAT: 3 to 4 weeks

Alpha Thalassemia Mutation Screening (3 Common Mutations)

To screen for three common mutations in the alpha thalassemia genes (HBA1 and HBA2) to identify carr...

🩸Sample: Peripheral blood
TAT: 7-8 days

Bone Marrow for Karyotyping

Bone marrow karyotyping is used to detect genetic abnormalities, diagnose blood cancers like leukemi...

🩸Sample: Bone Marrow / Peripheral blood
TAT: 7-8 days

CALR Mutation Analysis (Deletion or Insertion in Exon 9)

The purpose of CALR Mutation Analysis is to diagnose CALR gene mutations associated with myeloprolif...

🩸Sample: Bone Marrow/Peripheral Blood
TAT: 7-8 days

Bone Marrow Failure Syndrome

The purpose of the Bone Marrow Failure Syndrome genetic test is to identify inherited genetic mutati...

🩸Sample: Peripheral Blood
TAT: 4-6 weeks

CLL Panel (Cytogenetics + FISH [del(11q), trisomy 12, del(13q), del(17p)])

The CLL Panel test is designed to detect genetic abnormalities associated with Chronic Lymphocytic L...

🩸Sample: Bone marrow / Peripheral blood
TAT: 10 days

Extended AML Panel (BCR/ABL,AML/ETO, CBFB, PML/RARA, FLT3, NPM1, CEBPA)

The purpose of the Extended AML Panel is to detect genetic mutations in genes such as BCR/ABL, AML/E...

🩸Sample: Bone marrow / Peripheral blood
TAT: 7-8 days

Erythropoietin Receptor Gene Mutation Analysis

The purpose of Erythropoietin Receptor Gene Mutation Analysis is to detect genetic variations in the...

🩸Sample: Peripheral blood
TAT: 7-8 days

Haemophilia A & B Gene Panel

The purpose of the Haemophilia A & B Gene Panel is to diagnose haemophilia A and B by detecting muta...

🩸Sample: Peripheral blood
TAT: 4-6 weeks

JAK2 Gene (V617F) Quantitative

To diagnose polycythemia vera and other myeloproliferative neoplasms by detecting and quantifying th...

🩸Sample: Bone marrow / Peripheral blood
TAT: 3-4 days

Jak 2 Mutation Detection Panel (Exons 12)

The purpose of the JAK2 Mutation Detection Panel (Exons 12) test is to detect mutations in the JAK2...

🩸Sample: Bone Marrow/Peripheral Blood
TAT: 7-8 days

Jak 2 Mutation Detection Panel (Exons 12-15)

The purpose of the Jak 2 Mutation Detection Panel (Exons 12-15) is to detect genetic mutations in th...

🩸Sample: Bone Marrow/Peripheral Blood
TAT: 7-8 days

Myeloproliferative Neoplasia (MPN) Panel (BCR QLT,JAK2 PANEL,CALR, MPL)

The purpose of the MPN Panel test is to identify specific genetic mutations (BCR-ABL1, JAK2, CALR, M...

🩸Sample: Blood
TAT: 15 working days

NPM1+ CEBPA

The purpose of the NPM1+ CEBPA test is to identify genetic mutations in the NPM1 and CEBPA genes, wh...

🩸Sample: Bone marrow / Peripheral blood
TAT: 7-8 days

NPM1+FLT3

To detect mutations in NPM1 and FLT3 genes for diagnosis, prognosis assessment, and treatment planni...

🩸Sample: Bone marrow or Peripheral blood
TAT: 7-8 days

RUNX1-RUNX1T1 (AML1- ETO) t(8;21) Qualitative

The purpose of the RUNX1-RUNX1T1 (AML1-ETO) t(8;21) qualitative test is to detect the presence of th...

🩸Sample: Bone marrow / Peripheral blood
TAT: 3-4 days

Sickle Cell Disease Mutation Screening

The purpose of this test is to identify mutations in the HBB gene that cause Sickle Cell Disease, en...

🩸Sample: Peripheral blood
TAT: 3-4 days

Beta-Globin Quantitative Test

To diagnose and monitor genetic blood disorders such as sickle cell anemia and thalassemia by measur...

🩸Sample: Whole Blood, Culture Cells
TAT: 3 Working Days

Hemophilia A Common Mutation Screening (Factor VIII Intron 22 and Intron 1 Inversion Analysis)

The purpose of this test is to screen for the most common genetic mutations (inversions in Intron 22...

🩸Sample: Blood
TAT: 10-11 days

F5 Gene Budd-Chiari Syndrome NGS Genetic Test

The purpose of this genetic test is to detect F5 gene mutations that increase the risk of blood clot...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

SBDS Gene Aplastic anemia, SBDS related NGS Genetic Test

To identify mutations in the SBDS gene for diagnosing Shwachman-Diamond syndrome and assessing the r...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

PRF1 Gene Aplastic anemia NGS Genetic Test

To detect pathogenic mutations in the PRF1 gene associated with aplastic anemia and related immune d...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

FANCF Gene Fanconi anemia type F NGS Genetic Test

The primary purpose of the FANCF Gene Fanconi Anemia Type F NGS Genetic Test is to detect mutations...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

HAMP Gene Hemochromatosis type 2B NGS Genetic Test

The purpose of the HAMP Gene Hemochromatosis type 2B NGS Genetic Test is to diagnose hemochromatosis...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

GPI Gene Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency NGS Genetic Test

The purpose of this test is to diagnose glucose phosphate isomerase deficiency by identifying pathog...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

G6PD Gene Hemolytic anemia due to G6PD deficiency NGS Genetic Test

The purpose of this test is to identify pathogenic mutations in the G6PD gene using NGS technology,...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

CD59 Gene Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy NGS Genetic Test

The purpose of this test is to identify mutations in the CD59 gene that cause CD59-mediated hemolyti...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

GFI1 Gene Neutropenia, nonimmune chronic idiopathic, of adults NGS Genetic Test

To identify mutations in the GFI1 gene for diagnosing nonimmune chronic idiopathic neutropenia in ad...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency NGS Genetic Test

To identify pathogenic variants in the GGCX gene for accurate diagnosis of Pseudoxanthoma elasticum-...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

GP1BA Gene Bernard Soulier syndrome type A1 NGS Genetic Test

The purpose of the GP1BA Gene Bernard Soulier Syndrome Type A1 NGS Genetic Test is to identify patho...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

GP1BB Gene Bernard Soulier syndrome type B NGS Genetic Test

To confirm a suspected diagnosis of Bernard-Soulier syndrome type B, identify carriers of GP1BB gene...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

GP9 Gene Bernard Soulier syndrome type C NGS Genetic Test

To diagnose Bernard Soulier Syndrome Type C by analyzing GP9 gene mutations using NGS technology, ai...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

F2 Gene Factor II deficiency NGS Genetic Test

The purpose of this test is to diagnose Factor II deficiency by identifying mutations in the F2 gene...

🩸Sample: Blood, Extracted DNA, or One drop Blood on FTA Card
TAT: 3-4 weeks

F7 Gene Factor VII deficiency NGS Genetic Test

To identify mutations in the F7 gene causing Factor VII deficiency for diagnosis and management.

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

FGA Gene Afibrinogenemia, congenital NGS Genetic Test

To identify mutations in the FGA gene that cause congenital afibrinogenemia, aiding in definitive di...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

FGB Gene Afibrinogenemia, congenital NGS Genetic Test

To detect mutations in the FGB gene that cause congenital afibrinogenemia, enabling accurate diagnos...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

FGG Gene Afibrinogenemia, congenital NGS Genetic Test

The purpose of the FGG Gene Afibrinogenemia NGS Genetic Test is to identify mutations in the FGG gen...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

PKLR Gene Adenosine triphosphate, elevated, of erythrocytes NGS Genetic Test

The purpose of the PKLR Gene NGS Genetic Test is to identify mutations in the PKLR gene that cause p...

🩸Sample: Blood or Extracted DNA or One Drop Blood on FTA Card
TAT: 3 to 4 Weeks

IGLL1 Gene Agammaglobulinemia type 2, autosomal recessive NGS Genetic Test

To identify mutations in the IGLL1 gene for accurate diagnosis of Agammaglobulinemia Type 2, autosom...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

BTK Gene Agammaglobulinemia type 1, X-linked NGS Genetic Test

The purpose of the BTK Gene NGS Genetic Test is to diagnose X-linked agammaglobulinemia by identifyi...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

PIK3R1 Gene Agammaglobulinemia type 7, autosomal recessive NGS Genetic Test

To diagnose Agammaglobulinemia Type 7 by detecting mutations in the PIK3R1 gene using Next Generatio...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

SPTB Gene Anemia, neonatal hemolytic, fatal and near-fatal NGS Genetic Test

To diagnose mutations in the SPTB gene that cause neonatal hemolytic anemia, enabling early treatmen...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic Test

The purpose of the ATRX Gene NGS Genetic Test is to diagnose Alpha-thalassemia/mental retardation sy...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

SLC25A38 Gene Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive NGS Genetic Test

The purpose of this test is to diagnose SLC25A38 gene anemia by detecting mutations in the SLC25A38...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

ABCB7 Gene Anemia, sideroblastic, with ataxia NGS Genetic Test

To diagnose ABCB7 gene mutations causing sideroblastic anemia with ataxia, guide treatment, and prov...

🩸Sample: Blood
TAT: 3-4 weeks

ALAS2 Gene Anemia, sideroblastic, X-linked NGS Genetic Test

The purpose of the ALAS2 Gene Anemia NGS Genetic Test is to diagnose X-linked sideroblastic anemia b...

🩸Sample: Blood
TAT: 3 to 4 Weeks

RPL11 Gene Diamond-Blackfan anemia type 7 NGS Genetic Test

To diagnose Diamond-Blackfan anemia type 7 by detecting mutations in the RPL11 gene using next-gener...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

RPS7 Gene Diamond-Blackfan anemia type 8 NGS Genetic Test

To diagnose Diamond-Blackfan Anemia Type 8 by detecting mutations in the RPS7 gene using next-genera...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

RPL5 Gene Diamond-Blackfan anemia type 6 NGS Genetic Test

The purpose of the RPL5 Gene Diamond-Blackfan Anemia Type 6 NGS Genetic Test is to identify pathogen...

🩸Sample: Blood or Extracted DNA or One Drop Blood on FTA Card
TAT: 3 to 4 Weeks

CYBB Gene Granulomatous disease, chronic, X-linked NGS Genetic Test

To identify mutations in the CYBB gene associated with X-linked chronic granulomatous disease for ac...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

G6PD Gene Hemolytic anemia due to G6PD deficiency NGS Genetic Test

The purpose of this test is to identify mutations in the G6PD gene that cause enzyme deficiency, lea...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

TPI1 Gene Hemolytic anemia due to triosephosphate isomerase deficiency NGS Genetic Test

The purpose of the TPI1 Gene Hemolytic Anemia NGS Genetic Test is to diagnose triosephosphate isomer...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

CD59 Gene Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy NGS Genetic Test

The purpose of the CD59 Gene NGS Genetic Test is to identify mutations in the CD59 gene that may lea...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

F9 Gene Hemophilia B NGS Genetic Test

To diagnose Hemophilia B by detecting mutations in the F9 gene, identify carriers, guide treatment d...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

KEL Gene Hemolytic anemia, Kell-system related NGS Genetic Test

To diagnose KEL gene hemolytic anemia and other Kell-system related disorders by identifying mutatio...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

GPI Gene Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency NGS Genetic Test

The purpose of this test is to diagnose glucose phosphate isomerase deficiency by detecting mutation...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

HBG2 Gene Hereditary persistence of fetal hemoglobin NGS Genetic Test

To diagnose Hereditary Persistence of Fetal Hemoglobin (HPFH) by identifying mutations in the HBG2 g...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

LARS2 Gene Hydrops, lactic acidosis, and sideroblastic anemia NGS Genetic Test

To identify pathogenic mutations in the LARS2 gene for accurate diagnosis of hydrops, lactic acidosi...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3-4 weeks

CBLIF Gene Intrinsic factor deficiency NGS Genetic Test

The purpose of this test is to identify genetic mutations in the CBLIF gene that lead to intrinsic f...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

TMPRSS6 Gene Iron-refractory iron deficiency anemia NGS Genetic Test

To diagnose Iron-refractory iron deficiency anemia (IRIDA) by identifying mutations in the TMPRSS6 g...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3-4 weeks

FERMT3 Gene Leukocyte adhesion deficiency type 3 NGS Genetic Test

The purpose of this test is to identify mutations in the FERMT3 gene that cause Leukocyte Adhesion D...

🩸Sample: Blood, Extracted DNA, or FTA Card
TAT: 3 to 4 Weeks

TERT Gene Leukemia, acute myeloid form, susceptible due to TERT germline mutation NGS Genetic Test

To detect germline mutations in the TERT gene that confer susceptibility to Acute Myeloid Leukemia (...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

ITK Gene Lymphoproliferative syndrome type 1 NGS Genetic Test

The purpose of the ITK Gene Lymphoproliferative Syndrome Type 1 NGS Genetic Test is to identify muta...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

KLF1 Gene Lutheran inhibitor blood group NGS Genetic Test

The purpose of this test is to diagnose genetic mutations in the KLF1 gene that affect the Lutheran...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

AMN Gene Megaloblastic anemia type 1 NGS Genetic Test

To diagnose AMN Gene Megaloblastic Anemia Type 1 by identifying mutations in the AMN gene using NGS...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

CYB5R3 Gene Methemoglobinemia type 1 NGS Genetic Test

To diagnose CYB5R3 gene mutations causing Methemoglobinemia Type 1, confirm hereditary basis, guide...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

HAX1 Gene Neutropenia, severe congenital type 3 NGS Genetic Test

To identify mutations in the HAX1 gene for diagnosis of severe congenital neutropenia type 3, guidin...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3-4 weeks

ELANE Gene Neutropenia, severe congenital type 1 NGS Genetic Test

The purpose of the ELANE Gene Neutropenia NGS Genetic Test is to identify mutations in the ELANE gen...

🩸Sample: Blood, Extracted DNA, or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

VPS45 Gene Neutropenia, severe congenital type 5, autosomal recessive NGS Genetic Test

The purpose of the VPS45 Gene Neutropenia Test is to confirm the genetic diagnosis of severe congeni...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

PEAR1 Gene Platelet aggregation disorder NGS Genetic Test

To identify mutations or abnormalities in the PEAR1 gene that cause platelet aggregation disorders,...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

CSF3R Gene Neutrophilia, hereditary NGS Genetic Test

To identify pathogenic variants in the CSF3R gene associated with hereditary neutrophilia, aiding in...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

RUNX1 Gene Platelet disorder with associated myeloid malignancy NGS Genetic Test

To diagnose RUNX1 gene platelet disorder with associated myeloid malignancy using NGS technology, en...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 weeks

ALAS2 Gene Protoporphyria, erythropoietic, X-linked NGS Genetic Test

The purpose of the ALAS2 Gene Protoporphyria NGS Genetic Test is to identify mutations in the ALAS2...

🩸Sample: Blood
TAT: 3 to 4 Weeks

CD36 Gene Platelet glycoprotein IV deficiency NGS Genetic Test

To detect mutations in the CD36 gene that cause Platelet Glycoprotein IV Deficiency, aiding in diagn...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

SBDS Gene Shwachman-Diamond syndrome NGS Genetic Test

The purpose of the SBDS Gene Shwachman-Diamond Syndrome NGS Genetic Test is to identify pathogenic m...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

HBB Gene Sickle cell anemia NGS Genetic Test

The purpose of this test is to detect mutations in the HBB gene associated with sickle cell anemia f...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

SPTB Gene Spherocytosis type 2 NGS Genetic Test

The purpose of this test is to detect mutations in the SPTB gene to confirm a diagnosis of Spherocyt...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

SPTA1 Gene Spherocytosis type 3 NGS Genetic Test

The purpose of this test is to detect mutations in the SPTA1 gene associated with hereditary spheroc...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

STIM1 Gene Stormorken syndrome NGS Genetic Test

To diagnose Stormorken syndrome by identifying pathogenic mutations in the STIM1 gene using Next-Gen...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

HBD Gene Thalassemia, delta NGS Genetic Test

The purpose of the HBD Gene Thalassemia delta NGS Genetic Test is to identify mutations in the HBD g...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

GP1BA Gene von Willebrand disease platelet type NGS Genetic Test

To accurately diagnose von Willebrand disease platelet type by identifying mutations in the GP1BA ge...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

MPL Gene Thrombocytopenia congenital amegakaryocytic NGS Genetic Test

To identify mutations in the MPL gene causing congenital amegakaryocytic thrombocytopenia, enabling...

🩸Sample: Blood, Extracted DNA, or FTA Card
TAT: 3 to 4 weeks

SLC19A2 Gene Thiamine-responsive megaloblastic anemia syndrome NGS Genetic Test

To diagnose Thiamine-responsive megaloblastic anemia syndrome by detecting mutations in the SLC19A2...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic Test

The purpose of the ERCC6L2 Gene NGS Genetic Test is to identify mutations in the ERCC6L2 gene associ...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 Weeks

LBR Gene Pelger-Huet anomaly NGS Genetic Test

The purpose of this test is to identify pathogenic variants in the LBR gene that cause Pelger-Huet A...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3-4 weeks

JAK2 Gene Thrombocythemia type 3, somatic NGS Genetic Test

The purpose of this test is to detect somatic mutations in the JAK2 gene that are associated with es...

🩸Sample: Blood or Extracted DNA or One drop Blood on FTA Card
TAT: 3 to 4 weeks

Beta Thalassemia -12 Common Mutations Screening (Single)

The primary purpose of this test is to identify carriers of beta thalassemia by detecting 12 common...

🩸Sample: Peripheral blood
TAT: 6-7 days

Beta Thalassemia-HBB Deletion/Duplication Analysis

The purpose of this test is to detect copy number variations (deletions or duplications) in the HBB...

🩸Sample: Amniotic fluid / Chorionic villi / Cord blood / Peripheral blood
TAT: 7-10 days

Beta Thalassemia-9 Common Mutations Screening (Single)

The purpose of this test is to identify the presence of nine common beta thalassemia mutations in th...

🩸Sample: Peripheral blood
TAT: 3-4 days

Beta Thalassemia-HBB Full Gene Analysis (Single)

The primary purpose of the Beta Thalassemia-HBB Full Gene Analysis is to identify pathogenic variant...

🩸Sample: Peripheral blood
TAT: 8-10 days

GATA2 Full-Length Gene Sequencing (Chronic Neutropenia, MonoMac Syndrome, Mylodysplasia, AML)

The purpose of GATA2 Full-Length Gene Sequencing is to identify mutations in the GATA2 gene that cau...

🩸Sample: Bone Marrow / Peripheral Blood
TAT: 15 days

Hemoglobin D Punjab(HbD) Mutation Study

The purpose of the Hemoglobin D Punjab mutation study is to detect the presence of the HbD mutation...

🩸Sample: Amniotic fluid / Chorionic villi / Cord blood
TAT: 7-8 days

Jak-2 Mutation Detection (RNA Detection) Qualitative Test

The primary purpose of the JAK2 Mutation Detection (RNA) Qualitative Test is to aid in the diagnosis...

🩸Sample: Peripheral Whole Blood
TAT: 3rd Working Day

Alpha Thalassemia Gene Analysis HBA1

The purpose of this test is to identify pathogenic variants in the HBA1 and HBA2 genes that cause al...

🩸Sample: Blood
TAT: 2-3 Weeks

Alpha Thalassemia HBA1

The primary purpose of the HBA1-HBA2 deletion/duplication analysis is to detect copy number changes...

🩸Sample: Blood
TAT: 2-3 weeks
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