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Inherited Disorders
What do we test?
What is the purpose?
Sample source
Clinical Exome Profiling

What do we test?

Screening for 5000+ genes that are known to harbor disease-causing mutations

What is the purpose?

Identification of pathogenic mutations for all inherited disorders that are not covered in any individual test

Sample source

Blood/DNA
Inherited Diseases Panel

What do we test?

Tests for 552 genes which harbor mutations responsible for severe, recessive pediatric-onset inherited diseases

What is the purpose?

Identification of known pathogenic mutations useful for pre-conception carrier testing and for early diagnosis

Sample source

Blood/DNA
Whole Exome Sequencing

What do we test?

Sequences Coding regions of entire genome

What is the purpose?

Investigation for unclear presentations that cannot be linked to a specific disease

Sample source

Blood/DNA
One Seq Panel

What do we test?

Detection of Mutation and copy number variation

What is the purpose?

This single test effectively obliterates the need for 2- tier microarray & NGS based testing.

Sample source

Blood/DNA
Copy Number Variations
What do we test?
What is the purpose?
Sample source
CGH Array

What do we test?

Copy number changes including deletions and amplifications

What is the purpose?

Testing in individuals with developmental delay, mental retardation and related conditions.

Sample source

Blood /DNA
Nephrology
What do we test?
What is the purpose?
Sample source
Inherited Common Nephrological Disorders

What do we test?

Tests for 57 genes associated with inherited renal disorders like Alport Syndrome, PKD, FSGS,aHUS, Hyperoxaluria,Nephrotic Syndrome,Medullary Cystic Disease

What is the purpose?

Accurate Diagnosis & prognosis helps you decide next course of treatment/Transplant

Sample source

Blood /DNA
Neurology
What do we test?
What is the purpose?
Sample source
NeuroMuscular Panel

What do we test?

This panel identifies point mutations as well as deletion and duplications in some common genes in neuromuscular disorders like Duchenne Muscular Dystrophy .

What is the purpose?

This single test effectively obliterates the need for 2- tier MLPA & NGS based testing

Sample source

Blood/DNA
Mitochondrial Gene Sequencing

What do we test?

Sequences all mitochondrial genes

What is the purpose?

Identification of Mutations related to mitochondrial genome.

Sample source

Blood/DNA
oncology
What do we test?
What is the purpose?
Sample source
Brca 1 & Brca 2-Mutation Profiling

What do we test?

Mutation profiling of BRCA 1 and BRCA 2 genes.

What is the purpose?

Supports diagnosis and aids in pre-symptomatic testing in members of the extended family

Sample source

Blood/DNA
BRCA-1 & BRCA-2-MLPA Analysis

What do we test?

Del/Dup of BRCA 1 and BRCA 2 genes by MLPA

What is the purpose?

Supports diagnosis and aids in pre-symptomatic testing in members of the extended family

Sample source

Blood/DNA
Tumour Hotspot profiling

What do we test?

Screens hotspots in 48 well-known oncogenes and tumour suppressor genes to detect disease-causing mutations

What is the purpose?

Identification of mutations within the set of cancer-related genes that can aid in treatment decisions

Sample source

FFPE/Flash Frozen tissue
Cardiology
What do we test?
What is the purpose?
Sample source
Cardiac Channelopathy Panel

What do we test?

Multiplexed assay for detecting mutations in 33 genes known to cause cardiac channelopathies.

What is the purpose?

Diagnosis for multiple forms of cardiac channelopathies including Brugada syndrome,Long QT Syndrome and CPVT.

Sample source

Blood/DNA
Metabolic Disorders
What do we test?
What is the purpose?
Sample source
Metabolic Disorder Panel

What do we test?

A comprehensive diagnosis of more than 120 Metabolism errors. It screens coding regions of 300+ genes

What is the purpose?

Identification of pathogenic mutations for recessive disorders useful for pre-conception carrier testing & early diagnosis

Sample source

Blood/DNA
Carrier Testing
What do we test?
What is the purpose?
Sample source
Carrier Testing

What do we test?

Carrier Testing of a mutation in a family member of patient

What is the purpose?

A sample for which the proband validation has already done

Sample source

Blood/DNA
Pre-Natal Validation
What do we test?
What is the purpose?
Sample source
Pre-Natal Validation

What do we test?

A sample for which the proband/parental mutation testing has already been done

What is the purpose?

To identify the status of the foetus with respect to the specific disorder diagnosed in the proband/parent/family

Sample source

Blood/DNA
Single Gene Test
What do we test?
What is the purpose?
Sample source
Beta thalassemia

What do we test?

Tests 5 most common hotspots specific to the Indian population Single

What is the purpose?

Aid in prenatal diagnosis and to identify carriers in the family.

Sample source

Blood/DNA
Single Gene Test

What do we test?

Test for specific genes

What is the purpose?

To support clinically confirmed diagnoses

Sample source

Blood/DNA
Customised Gene Panel
What do we test?
What is the purpose?
Sample source
Customised Gene Panel

What do we test?

Upon request we can design specific gene panel

What is the purpose?

To cater to a specific group of patients

Sample source

Blood/DNA
Launching Soon
What do we test?
What is the purpose?
Sample source
Autism Array

What do we test?

Detects copy number variation implicated in autism

What is the purpose?

To assist with decisions about treatment and management of individuals with autism.

Sample source

Blood/DNA

Contact

Dhiti Omics Technologies Private Ltd
No 2/10, 2nd Floor, Prasad Group Complex
Sanjay Nagar 80 Feet Road, Poojari Layout
RMV 2nd Stage, Bangalore 560094, India

contact@dhitiomics.com

+91 8971278811

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