Dhiti Omics ~ Diagnostic Services

Whole Genome Sequencing [WGS]

Description

Comprehensive Screening for Rare Genetic Disorders. Mainly for prognostic, diagnostic, preventive & therapy modulation of diseases

Technology

Next-Generation Sequencing [NGS]

Sample required

4mL whole blood in EDTA tube / gDNA

Whole Exome Sequencing [WES]

Description

Mainly for prognostic, diagnostic, preventive & therapy modulation of diseases

Technology

Next-Generation Sequencing [NGS]

Sample required

4mL whole blood in EDTA tube / gDNA

Hirschsprung Disease Panel

Description

This test is used for the diagnosis of Hirschsprung disease or aganglionic megacolon

Technology

Next-Generation Sequencing [NGS]

Sample required

4mL whole blood in EDTA tube / gDNA

Mitochondrial Disorder Panel

Description

Targets the full mitochondrial genome, without amplifying any nuclear encoded genes.

Technology

PCR + NGS

Sample required

4mL whole blood in EDTA tube /

Metabolic Disorder Panel

Description

Accurate diagnosis of Metabolism Errors and other Paediatric-Onset Genetic Disorders. Sequencing coding regions of 300+ genes linked to 120+ such disorders

Technology

Next-Generation Sequencing [NGS]

Sample required

4mL whole blood in EDTA tube / gDNA

Endocrine Disorder Panel

Description

Several endocrine disorders have a strong genetic component. Genetic tests can guide treatment in patients, and pave way for carrier screening in families.

Technology

Next-Generation Sequencing [NGS]

Sample required

4mL whole blood in EDTA tube / gDNA

Cardiac Disorder Panel

Description

Screens for Cardiacmyopathies, Cardiac channelopathies, and Congenital Heart Diseases

Technology

Next-Generation Sequencing [NGS]

Sample required

4mL whole blood in EDTA tube / gDNA

Neurological Disorder Panel

Description

Targeted analysis for 1200 genes associated with neurological disorders.

Technology

Next-Generation Sequencing [NGS]

Sample required

4mL whole blood in EDTA tube / gDNA

Neuromuscular Disorder Panel

Description

Confirms diagnosis of patients with muscular dystrophies, carrier testing of family members or for prenatal testing in offspring

Technology

Next-Generation Sequencing [NGS]

Sample required

4mL whole blood in EDTA tube / gDNA

CGH-Microarray

Description

Copy number changes including deletions and amplifications in developmental delays, mental retardation, and related conditions

Technology

Microarray

Sample required

3mL whole blood in EDTA / Saliva / buccal swab

Inherited Common Nephrological Disorders

Description

Screens the coding regions of 57 genes associated with inherited renal diseases

Technology

Next-Generation Sequencing [NGS]

Sample required

4mL whole blood in EDTA tube / gDNA

CYP3A5 Genotyping for Tacrolimus

Description

Detects SNPs in CYP3A5 gene associated with tacrolimus metabolism.

Technology

Sanger sequencing

Sample required

4mL whole blood in EDTA tube / gDNA

Pre-Natal Testing

Description

Abnormal Double marker or Triple marker test can be an indicative of Trisomies [T13, T18, T21]. Cytogenetic analysis [karyotyping & FISH] or Molecular analysis can be performed to rule out the possibility of prenatal abnormalities.

Technology

Next-Generation Sequencing [NGS]

Sample required

4mL whole blood in EDTA tube / 10mL Amniotic Fluid / CVS

Mutation Testing for Pre – Natal validation (Includes MCC)

Description

VNTR/ STR analysis by PCR to rule out maternal cell contamination (MCC) in a prenatal sample under analysis

Technology

Sanger sequencing

Sample required

4mL whole blood in EDTA tube (mother) and 10mL Amniotic Fluid/CVS

Cystic Fibrosis Hotspot Testing

Description

Detects F508del mutation found in >80% of CF Patients. This is clinically actionable, with treatments such as lumacaftor/tezacaftor that help the defective CFTR fold correctly

Technology

Sanger sequencing

Sample required

4mL whole blood in EDTA tube

Inherited Cancer Panel

Description

Screens for a whole gamut of inherited cancers, such as Lynch Syndrome, Breast and Ovarian Cancers etc

Technology

Next-Generation Sequencing [NGS]

Sample required

4mL whole blood in EDTA tube / gDNA

AML Comprehensive PCR Panel

Description

BCR-ABL1, PML-RaRa, AML-ETO, Inv16, FLT3 (ITD/TKD), NPM1, c KIT

Technology

RT-PCR

Sample required

4mL whole blood in EDTA tube / gDNA

ALL Comprehensive PCR Panel

Description

BCR-ABL1, TEL-AML1, MLL-AF4, MLL-AF9, MLL- ENL, E2A-PBX1

Technology

RT-PCR

Sample required

4mL whole blood in EDTA tube / gDNA

BCR-ABL Qualitative [Major, Minor & Micro]

Description

BCR-ABL1

Technology

RT-PCR

Sample required

4mL whole blood in EDTA tube / gDNA

BCR-ABL1 Quantitative [Major, Minor & Micro], WHO International Scale

Description

BCR-ABL1

Technology

RT-PCR

Sample required

4mL whole blood in EDTA tube / gDNA

Human Immuno-deficiency Virus [HIV]

Description

Real-Time PCR test with Taqman Probe Chemistry would be used to identify the HIV

Technology

RT-PCR

Sample required

6 mL whole blood in EDTA / 2 mL Plasma

Hepatitis B Virus [HBV]

Description

Real-Time PCR with Taqman Probe Chemistry would be used to identify the Hepatitis B pathogen

Technology

RT-PCR

Sample required

6 mL whole blood in EDTA / 2 mL Plasma

Hepatitis C Virus [HCV]

Description

Real-Time PCR with Taqman Probe Chemistry would be used to identify the Hepatitis C pathogen

Technology

RT-PCR

Sample required

6 mL whole blood in EDTA / 2 mL Plasma

Human Papilloma Virus [HPV]

Description

Real-Time PCR with Taqman Probe Chemistry would be used to differentially identify HPV16 and HPV 18.

Technology

RT-PCR

Sample required

3 mL Cervical, anal, or vaginal specimen with brush or spatula from ThinPrep or SurePath collection kits

Fuvibact

Description

A rapid, sensitive, accurate and high-throughput diagnostic test that uses metagenomics approach through NGS (Nanopore Sequencing Based) to identify pathogens (bacteria, fungi, and viruses) and associated antimicrobial resistance from various body fluids with rapid turnaround time of 24 to 36 hours.

Technology

Nanopore sequencing [Whole Genome Sequencing]

Sample required

Blood, saliva, urine, feces, and cerebrospinal fluid

Carrier Testing

Description

Targeted mutation testing in family, when the mutation has already been established in proband

Technology

Next-Generation Sequencing [NGS]

Sample required

4mL whole blood in EDTA tube / Saliva / buccal swab / gDNA

Sickle Cell Anaemia Testing

Description

Detection of Sickle Cell Anaemia mutations

Technology

Next-Generation Sequencing [NGS]

Sample required

4mL whole blood in EDTA tube / Saliva / buccal swab / gDNA

Alpha Thalassemia Testing

Description

Detects point mutations in HBA1 & HBA2 genes

Technology

Next-Generation Sequencing [NGS]

Sample required

4mL whole blood in EDTA tube / Saliva / buccal swab / gDNA

Beta Thalassemia Testing

Description

Detects point mutations in HBB gene

Technology

Next-Generation Sequencing [NGS]

Sample required

4mL whole blood in EDTA tube / Saliva / buccal swab / gDNA

Single Gene Sequencing

Description

Based on your requirement

Technology

Sanger / Nanopore

Sample required

4mL whole blood in EDTA tube / Saliva / buccal swab / gDNA

Data Reanalysis

Description

Based on your requirement

Technology

Sample required

Result Interpretation

Description

Based on your requirement

Technology

Sample required

Genetic Counselling

Description

Based on your requirement

Technology

Sample required

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Contact

contact@dhitiomics.com

+91 8971278811

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