Special Gene Panels For Inherited Conditions

GeneTech's specialty based multi-gene panels allows rapid and cost-effective diagnosis of multiple disorders by multi-gene Next Generation Sequencing. Usage scenarios are:

  • When the clinical diagnosis is not very clear and the phenotype falls under a broad spectrum with symptoms involving primarily a specific organ system
  • When multiple gene etiology of specific condition or phenotype is evident
  • When risk for family members is being evaluated in the absence of accurate proband information (affected individual)
  • For super specialty doctors interested in knowing risk for limited disorders with hundreds of genes rather than scanning for thousands of conditions
  • Therapy related decisions will depend on variants found in multiple genes

 

S.No Test name TAT (Days)
1 Comprehensive Inherited Cancers Gene Panel – 120 genes 15
2 Renal Disorders Gene Panel – 175 genes 15
3 Severe Combined immunodeficiency Gene Panel – 93 genes 15
4 Opthalmic Diseases Gene Panel – 335 genes 15
5 Epilepsy Gene Panel – 359 genes 15
6 Hearing Loss Gene Panel – 140 genes 15
7 Autism and Intellectual Disability – 100 genes 15
8 Abnormal Genetilia – 71 genes 15
9 Skeletal Dysplasia Gene Panel – 201 genes 15
10 Neuro Muscular disorders Gene Panel – 106 genes 15
11 Cardiomyopathies Gene Panel – 137 genes 15
12 Mitochondrial Maintenance Disorders (Nuclear DNA) Gene Panel – 33 genes 15
13 Mitochondrial Disorders (Mt) Gene Panel – 23 genes 15
14 Parkinson Disorder Gene Panel – 40 genes 15

Comprehensive Inherited Cancers Gene Panel  (120 genes):
Predisposition to more than 40 hereditary cancer syndromes associated with Stomach, Colon, Rectum, Pancreas, Breast, Ovaries, Skin, Renal, Uterus, Prostate, Gastrointestinal & Endocrine Systems.

GeneNephro - Renal Gene Panel (175 genes):
More than 100 diseases including congenital and metabolic renal defects – Polycyctic kidney disease, Nephrotic and renal dysfunction syndromes, Joubert syndrome, glomerulopathy, nephronopthesis, renal angiopathies.

GeneImmune - Severe Combined Immunodeficiency (SCID) Gene Panel (93 genes):
More than 50 immunodeficiency syndromes, associated auto immunity disorders and lympho proliferative syndromes.

GeneOptho - Opthalmic Gene Panel (335 genes):
Around 50 inherited opthalmic conditions – Retinitis Pigmentosa, Micropthalmia, Cone & Rod dystrophy, Glaucoma, Cataract, Occular albinism, Atargardt disease, Stickler syndrome, Usher syndrome.

GeneSeize - Epilepsy Gene Panel (359 genes):
Familial neonatal/infantile seizures, myoclonal & nocturnal frontal lobe epilepsies, with auditory features, ragged red fiber disease, neuronal ceroid lipofuscinoses, neuronal migration disorders & febrile seizures generalized epilepsy.

GeneOto - Hearing loss Gene Panel (140 genes):
Both syndromic and non syndromic hearing loss disorders - unilateral & bilateral sensoneural hearing loss, Alport Syndrome, Branchio-Oto-Renal, Pendred , Stickler, Usher and Waardenburg Syndromes. 

GeneCognos – Autism & Mental retardation Gene Panel (100 genes):
Classical autism spectrum & childhood disintegrative disorders, Mental retardation disorders, Asperger, Rett, Brugada & Timothy syndromes, development delay & intellectual disability disorders.

GeneGender – Ambigous Genitalia Gene Panel (72 genes):
Disorders associated with ambigous genitalia, congenital reproductive developmental defects, disorders of sexual differentiation, gonadal dysgenesis, gonadal regression, disorders related to androgen biosynthesis, mullerian duct syndromes.

GeneOsteo – Skeletal Dysplasia Gene Panel (201 genes):
More than 400 inherited skeletal disorders such as Thanatropic dysplasia, Achondroplasia, Hypochondroplasia, Collagen disorders, Achondrogenesis, Chondrodysplasia, Dysplasias - Dyssegmental, short rib, Acromesomelic, Mesomelic, Campomelic, Microcephalic,  Osteopetrosis, Osteogenesis imperfecta, Hypophosphatasia.

GeneMotor – Neuro Muscular Gene Panel (106 genes):
Neuro muscular disorders such as Myopathies, Muscular dystrophies, Limb girdle muscular dystrophy, Nemaline & Myofibrillar myopathy, Duchene, Becker and Emery Dreifuss muscular dystrophies, Dystroglycanopathy, Hypertrophic cardiomyopathy.

GeneCardio – Cardio Myopathy Gene Panel (137 genes):
Cardiomyopathy disorders  such as atrial septal defect, dialted cardiomyopathy, atrial fibrillation, hypertrophic cardiomyopathy, venricular tachycardia, Leigh syndrome, cardio encephalomyopathy, Haematochromatosis, Choreoacanthocytosis etc.

GeneMiton (NU) – Mitochondrial disease Gene Panel (200+ nuclear encoded genes):
Disorders of mitochondrial protein synthesis, coenzyme Q10 biosynthesis,  respiratory chain complexes and mtDNA maintenance (ie, mitochondrial DNA depletion disorders). Poor growth, loss of muscle coordination, seizures, autism, learning disabilities, increased risk of infections, Dementia are some of the indications.

GeneMiton (MT) – Mitochondrial disease Gene Panel (30+ mitochondria encoded genes):
The panel covers defects of mitochondrial protein synthesis, disorders of coenzyme Q10 biosynthesis, respiratory chain complexes, disorders of mtDNA maintenance (mtDNA depletion disorders). Poor growth, loss of muscle coordination, seizures, autism, learning disabilities, increased infection risk, Dementia.

GeneParkinson – Parkinson Gene Panel (30+ genes):
Late onset Parkinson disease, Dystonias, herreditary leucoencephalopathy, Dementia, Neuroferritinopathy, Perry disease and others.

Sample Collection:
Blood - 3ml in PURPLE TOP (EDTA) Vacutainer
Amniotic Fluid - 20 to 30ml in Sterile Centrifuge Tube
CVS/POC - Tissue in normal saline in sterile container
Transport within 48 hrs at room temperature.