What is ExoSeq® Suite?

ExoSeq® Suite is a comprehensive DNA test that uses the Whole Exome Sequencing approach to help identify genes responsible for most genetic disorders.

1. ExoSeq® Comp – Covers the whole exome with a new approach in data analysis and interpretation. Replacing ExoSeq+, it covers the Whole Exome with a new approach in data analysis and interpretation.

-For complex cases, common genetic diseases, a comprehensive look at the exome.

2. ExoSeq® Meta – metabolic disease (476 genes)​

(Phenylketonuria, Gaucher Disease, Hurler Syndrome, Niemann-Pick Disease, Glucose-Galactose Malabsorption, Tay-Sachs Disease, Fabry Disease, Krabbe Disease, Galactosemia, Maple Syrup Urine Disease, Glycogen Storage Disease, Zellweger Syndrome, Adrenoleukodystrophy, Wilson Disease, Ornithine Transcarbamylase Deficiency, Hemochromatosis)

3. ExoSeq® Myo – muscular disorders (109 genes)​

(Duchenne Muscular Dystrophy, Beckers Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, Spinal Muscular Atrophy, Charcot-Marie-Tooth Disorder, Facioscapulohumeral Dystrophy, Myotonic Dystrophy, Emery-Dreifuss Dystrophy, Congenital Dystrophies, Congenital Myopathies, Arthrogryposis Multiplex Congenita, Mitochondrial Myopathies, Hereditary Spastic Paraplegia, Amyotrophic Lateral Sclerosis, Myasthenia Gravis)

4. ExoSeq® Onco – cancer predisposition (99 genes)​

(Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome, Familial Adenomatous Polyposis, Garner Syndrome, Muir-Torre Syndrome, MYH-Associated Polyposis (MAP), Juvenile Polyposis Syndrome, Peutz-Jeghers Syndrome, Hereditary Diffuse Gastric Cancer Syndrome, Li-Fraumeni Syndrome, Cowden (PTEN) Hamartomas Syndrome, Von Hippel Lindau, Multiple Endocrine Neoplasia, Hereditary Pheochromocytoma and Paraganglioma Syndrome, Turcot Syndrome)

5. ExoSeq® Cardio – comprehensive cardiac Disease (671 genes)​

(Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), Restrictive Cardiomyopathy, Left Ventricular Non-Compaction Syndrome (LVNC), Long QT Syndrome (LQTS), Brugada Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Short QT Syndrome (SQTS), Sudden Arrhythmic Death Syndrome (SADS), Jervell Lange-Nielsen syndrome)

6. ExoSeq® Neuro – comprehensive neuropathy (446 genes)​

(Charcot-Marie-Tooth Disease (CMT), Hereditary Motor Neuropathy, Hereditary Sensory and Autonomic Neuropathy, Andermann Syndrome, Small Fiber Neuropathy, Riboflavin Transporter Deficiency Neuronopathy, Hereditary Transthyretin-Mediated Amyloidosis, Spinal Muscular Atrophy (SMA), Cowchock Syndrome, Familial Dysautonomia, Giant Axonal Neuropathy, Spinocerebellar Ataxia, Huntington’s disease, Neurofibromatosis, Tourette’s syndrome, Wilsons’s disease)

7. ExoSeq® Immu – primary immunodeficiency (576 genes)​

(Combined immunodeficiency, Dyskeratosis congenita, Pulmonary alveolar proteinosis, WHIM syndrome, Monogenic congential diarrhea, Monogenic autoinflammatory syndromes, Monogenic autoimmunity, Hyper IgM syndrome, Major histocompatibility complex class I and II deficiencies, Chronic mucocutaneous candidiasis, Familial cold autoinflammatory syndromes, Familial Mediterranean fever, Congenital neutropenia, Chronic granulomatous disease, Leukocyte adhesion deficiency, Agammaglobulinemia and hypogammaglobulinemia, Monogenic common variable immune deficiency, Hermansky-Pudlak syndrome, Herpes simplex encephalitis)

8. ExoSeq® Dev – developmental disorders (99 genes)​

(Androgen insensitivity syndrome (AIS), Persistent Mullerian duct syndrome (PMDS), Congenital adrenal hyperplasia (CAH), 46,XY Disorders of Sex Development (46,XY DSD), 46,XX Disorders of Sex Development (46,XX DSD), 46,XY Complete Gonadal Dysgenesis (46,XY CGD), 46,XY Sex Reversal syndrome (46,XY SRS), Congenital adrenal hyperplasia (CAH), Combined pituitary hormone deficiency (CPHD), Kallmann syndrome, Peters-plus syndrome, STAR syndrome, Filippi syndrome, CHARGE syndrome, Methemoglobinemia and ambiguous genitalia, Fraser syndrome, Johanson-Blizzard syndrome)

9. ExoSeq® Sdn – sudden death (68 genes)​

(Long QT syndrome, Short QT syndrome, Familial atrial fibrillation, Brugada syndrome, Romano-Ward syndrome, Familial dilated cardiomyopathy, Familial hypertrophic cardiomyopathy, Familial thoracic aortic aneurysm and dissection, Hutchinson-Gilford syndrome, Sudden cardiac death syndrome, Tibial muscular dystrophy, Wolff-Parkinson-White pattern)

Who should get these tests done?

  • Couples struggling with recurrent miscarriages and IVF failure
  • Adults with a genetic condition
  • Children with a genetic condition or an undiagnosed complex disease
  • Couples with a family history of a genetic condition
  • Families with an affected child
  • Families where siblings or a child is struggling with a suspected genetic condition
  • Any individual struggling with an undiagnosed condition

Physicians and Doctors who are working with genetically linked diseases such as neurologists, geneticists, cardiologists, obstetricians, gynecologists, endocrinologists, and pediatricians can also consider these tests.

How will these tests and reports help?

We report all the findings related to the genetic condition to help finalize the clinical diagnosis wherever possible. The clinician can use this information to finalize the clinical diagnosis and provide suitable advice regarding one’s family history or potential of a child being affected by the same condition.

The patient or clinician can opt for Genetic counseling services for any queries related to the report.

The tests can help you to:

  1. Diagnose the condition and begin the necessary treatment as soon as possible
  2. Avoid unnecessary tests, procedures, and medications
  3. Decision making when planning your family

Available ExoSeq® Suite Options:

  1. Solo – Analysis for the proband only
  2. Trio – Analysis for the proband and the parents
  3. Trio+ – Analysis for the proband, parents, and an additional family member

Pre & Post-test Counseling

Scheduling an appointment for Genetic Counselling before and after a genetic test is highly recommended as it helps one understand the advantages and the limitations of the test. Most importantly the interpretation and the potential outcomes of the result can be discussed elaborately.

Genetic counseling can help to clear out misconceptions related to the test and its outcomes. Genetic conditions can be well-managed with the proper multi-disciplinary approach towards the management of the clinical manifestations of the disease. Since the management of genetic conditions is usually ‘symptomatic’(i.e. addressing the clinical symptoms that occur because of the genetic disease), it requires the inputs of several clinicians together, which the Genetic Counselor helps to collaborate. Genetic Counsellors offer all the information about the pros and cons of the test so that an informed choice can be made by the patient before agreeing to the test.

Agiomix has an in-house genetic counselor available for pre-test and post-test genetic counseling services.

How soon you will get your results?

Agiomix offers the convenience of quick clinical reporting with a standard Turnaround time of <6 weeks.

Which Types of Samples do we accept?

Agiomix accepts the below type of samples for testing: