Disease Segment Tests
Gastroentrology
Gastroenterology is the study of the normal function and diseases of the esophagus, stomach, small intestine, colon and rectum, pancreas, gallbladder, bile ducts and liver. It involves a detailed understanding of the normal action (physiology) of the gastrointestinal organs including the movement of material through the stomach and intestine (motility), the digestion and absorption of nutrients into the body, removal of waste from the system, and the function of the liver as a digestive organ.
Available Tests
- UGT1A1 repeat analysis
- Hemochromatosis gene panel
- Progressive familial intrahepatic cholestasis gene panel
- Wilson disease (ATP7B) gene analysis
- Alagille syndrome gene panel
- Wilson disease (ATP7B) deletion/duplication analysis
- Progressive familial intrahepatic cholestasis-3 (ABCB4) deletion/duplication analysis
- Gilbert syndrome (UGT1A1) gene analysis (only point mutation analysis)
- Polycystic liver disease gene panel
- Tyrosinemia gene analysis
- Congenital hepatic fibrosis gene panel
- Hemochromatosis gene panel
- Progressive familial intrahepatic cholestasis gene panel
- Wilson disease (ATP7B) gene analysis
- Alagille syndrome gene panel
- Aplastic anemia gene panel
- Gilbert or Crigler-Najjar syndrome (UGT1A1) gene analysis (only point mutations)
- Polycystic liver disease gene panel
- Tyrosinemia gene panel
- Congenital hepatic fibrosis gene panel
Immunology
Immunology is the study of the immune system and is a very important branch of the medical and biological sciences. The immune system protects us from infection through various lines of defence. If the immune system is not functioning as it should, it can result in disease, such as autoimmunity, allergy and cancer. It is also now becoming clear that immune responses contribute to the development of many common disorders not traditionally viewed as immunologic, including metabolic, cardiovascular, and neurodegenerative conditions such as Alzheimer’s.
Available Tests
- Agammaglobulinemia (BTK) gene analysis
- Chediak-Higashi syndrome (LYST) gene analysis
- Congenital neutropenia gene panel
- Primary immunodeficiency gene panel
- Severe combined immunodeficiency (SCID) gene panel
- HLA Typing confirmation (High resolution)
- TPMT and NUDT15 gene analysis
- HLA B51 testing
- HLA TYPING-HR (HLA A*,B*,C*,DRB1*,DQB1* and DPB1*
- CYP3A5 testing for Tacrolimus dosing
- Chimerism [post-engraftment monitoring]
- HLA Typing High resolution (HLA A, B, C, DRB1, DQB1)
- HLA-B* 1502 for carbamazepine toxicity
- Hyper-immunoglobulin E syndrome (DOCK8) gene sequencing
- Thrombotic Thrombocytopenic Purpura (ADAMTS13) gene analysis
- Lymphoproliferative Disorder Classifier Panel - Flowcytometry
- Chimerism testing
- HLA typing low resolution (HLA A, B, DRB1)
- HLA Typing High resolution (HLA A, B, C, DRB1, DQB1) - Expedited TAT
- HLA B27 testing
- IKBKG deletion/duplication analysis
- Agammaglobulinemia (BTK) gene analysis
- Chediak-Higashi syndrome (LYST) gene analysis
- Congenital neutropenia gene panel
- Primary immunodeficiency gene panel
- Severe combined immunodeficiency (SCID) gene panel
- Hyper-immunoglobulin E syndrome (DOCK8) gene sequencing
- Thrombotic Thrombocytopenic Purpura (ADAMTS13) gene analysis
Metabolic Disorder
A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders.
Available Tests
Nephrology
Nephrology deals with study of the normal working of the kidneys as well as its diseases. The diseases that come under the scope of nephrology include:- Glomerular disorders that affect the tiny filtering systems of the kidneys called the glomerulus.
Available Tests
- Alport syndrome gene panel
- Bartter syndrome gene panel
- Meckel Gruber syndrome gene panel
- Polycystic kidney disease gene panel
- Primary hyperoxaluria gene panel
- Xanthinuria gene panel
- Hemolytic uremic syndrome (CFH, CFHR1 & CFHR3) deletion duplication analysis
- Alport syndrome gene panel
- Bartter syndrome gene panel
- Meckel Gruber syndrome gene panel
- Polycystic kidney disease gene panel
- Primary hyperoxaluria gene panel
- Xanthinuria gene panel
- Nephrotic syndrome gene panel
Neurology
Neurology is the branch of medicine concerned with the study and treatment of disorders of the nervous system. The nervous system is a complex, sophisticated system that regulates and coordinates body activities. It has two major divisions: Central nervous system: the brain and spinal cord.
Available Tests
- MECP2 gene sequencing
- Ataxia Telengiectasia(chromosome instability syndrome)
- Fragile X Syndrome
- Comprehensive neurology panel
- Rett Syndrome (MECP2) deletion/duplication analysis
- Rett Syndrome gene panel
- ATRX gene analysis
- Brown Vialetto–Van Laere syndrome gene panel
- DCX & PAFAH1B1 deletion/duplication analysis
- Familial hemiplegic migraine gene panel
- Lissencephaly gene panel
- Microcephaly gene panel
- Neuronal migration disorder gene panel
- Pontocerebellar hypoplasia gene panel
- Brown Vialetto–Van Laere syndrome gene panel
Neurology-Epilepsy
Epilepsy is a central nervous system (neurological) disorder in which brain activity becomes abnormal, causing seizures or periods of unusual behavior, sensations and sometimes loss of awareness.
Anyone can develop epilepsy. Epilepsy affects both males and females of all races, ethnic backgrounds and ages.
Available Tests
- Dravet syndrome (SCN1A) gene analysis
- Dravet syndrome (SCN1A) deletion/duplication analysis
- Epileptic encephalopathy gene panel
- Familial female mental retardation/epilepsy gene panel
- Progressive myoclonic epilepsy gene panel
- Aicardi-Goutieres syndrome gene panel
- Early infantile epileptic encephalopathy-4 (STXBP1) deletion/duplication analysis
- TBC1D24 gene analysis
- TBC1D24 gene analysis
- Benign infantile epilepsy gene panel
- Dravet syndrome (SCN1A) gene analysis
- Epileptic encephalopathy gene panel
- Familial female mental retardation/epilepsy gene panel
- Progressive myoclonic epilepsy gene panel
- Aicardi-Goutieres syndrome gene panel
Neurology - Movement Disorders
The term movement disorders refers to a group of nervous system (neurological) conditions that cause either increased movements or reduced or slow movements. These movements may be voluntary or involuntary. Common types of movement disorders include: Ataxia.
Available Tests
- Ataxia-telangiectasia (ATM) deletion/duplication analysis
- Ataxia-telangiectasia (ATM) gene analysis
- Dystonia gene panel
- Early-onset juvenile parkinsonism gene panel
- Episodic ataxia gene panel
- Hyperekplexia gene panel
- Hereditary spastic paraplegia gene panel
- X-linked spastic paraplegia-2 (PLP1) deletion/duplication analysis
- Neurotransmitter disorders gene panel
- Dystonia gene panel
- Ataxia-telangiectasia (ATM) gene analysis
- Early-onset juvenile parkinsonism gene panel
- Episodic ataxia gene panel
- Hyperekplexia gene panel
- Hereditary spastic paraplegia gene panel
- Neurotransmitter disorders gene panel
- Neurofibromatosis type 1 (NF1) deletion/duplication analysis
- TSC1 & TSC2 gene analysis
- TSC1 deletion/duplication analysis
- TSC2 deletion/duplication analysis
- Neurofibromatosis (NF1 and NF2) gene analysis
- Neurofibromatosis type 2 (NF2) gene analysis
- TSC1 & TSC2 gene analysis
- Spinocerebellar ataxia 2 (ATXN2) repeat expansion analysis
- Spinocerebellar ataxia 3 (ATXN3) repeat expansion analysis
- Spinocerebellar ataxia 6 (CACNA1A) repeat expansion analysis
- Spinocerebellar ataxia 12 (PPP2R2B) repeat expansion analysis
- Spinocerebellar ataxia repeat expansion analysis: Any two of (SCA1, SCA2, SCA3, SCA6, SCA7, SCA12)
- Spinocerebellar ataxia repeat expansion analysis: SCA1, SCA2, SCA3, SCA6, SCA7,SCA12
- Spinocerebellar ataxia 7 (ATXN7) repeat expansion analysis
- Spinocerebellar ataxia 1 (ATXN1) repeat expansion analysis
- Neurofibromatosis (NF1 and NF2) gene analysis
- Neurofibromatosis type 2 (NF2) deletion/duplication analysis
- Neurofibromatosis type 2 (NF2) gene analysis
Neurology - Neurodegenerative
A type of disease in which cells of the central nervous system stop working or die. Neurodegenerative disorders usually get worse over time and have no cure. They may be genetic or be caused by a tumor or stroke. Neurodegenerative disorders also occur in people who drink large amounts of alcohol or are exposed to certain viruses or toxins. Examples of neurodegenerative disorders include Alzheimer's disease and Parkinson's disease.
Available Tests
- Canavan disease (ASPA) gene analysis
- Hypomyelination syndrome gene panel
- Krabbe disease (GALC) gene analysis
- Krabbe disease (GALC) deletion/duplication analysis
- Leukodystrophy gene panel
- Metachromatic leukodystrophy gene panel
- Pantothenate kinase-associated neurodegeneration (PANK2) deletion/duplication analysis
- Neurodegeneration with brain iron accumulation gene panel
- 4H syndrome gene panel
- Cystic megalencephaly (MLC1) gene analysis
- Joubert syndrome gene panel
- Neuronal ceroid lipofuscinosis gene panel
- NOTCH3 (CADASIL) gene analysis
- Tay-Sachs disease (HEXA) deletion/duplication analysis
- Tay-Sachs disease (HEXA) gene analysis
- Cystic megalencephaly (MLC1) deletion/duplication analysis
- Neurodegeneration with brain iron accumulation 2B (PLA2G6) deletion/duplication analysis
- Alexander disease (GFAP) gene analysis
- X-linked adrenoleukodystrophy (ABCD1) deletion/duplication analysis
- Giant axonal neuropathy-1 (GAN) gene analysis
- Adrenoleukodystrophy (ABCD1) gene analysis
- Alkaptonuria (HGD) gene analysis
- Canavan disease (ASPA) gene analysis
- Hypomyelination syndrome gene panel
- Krabbe disease (GALC) gene analysis
- Leukodystrophy gene panel
- Metachromatic leukodystrophy gene panel
- Neurodegeneration with brain iron accumulation gene panel
- 4H syndrome gene panel
- Cystic megalencephaly (MLC1) gene analysis
- Joubert syndrome gene panel
- Neuronal ceroid lipofuscinosis gene panel
- NOTCH3 (CADASIL) gene analysis
- Tay-Sachs disease (HEXA) gene analysis
- Alexander disease (GFAP) gene analysis
- Giant axonal neuropathy-1 (GAN) gene analysis
- Adrenoleukodystrophy (ABCD1) gene analysis
- Alkaptonuria (HGD) gene analysis
Neurology - Neuromuscular
Neuromuscular Pertaining to both nerves and muscles, as in neuromuscular blockade by an anesthetic agent, the neuromuscular junction (the meeting place of a nerve and a muscle fiber), and neuromuscular transmission (the transfer of "information" from the nerve to the muscle).
Available Tests
- Arthrogryposis & congenital myasthenic syndrome gene panel
- Charcot-Marie-Tooth and sensory neuropathies gene panel
- Charcot-Marie-Tooth 1A/HNPP (PMP22, COX10, TEKT3) deletion/duplication analysis
- PMP22 deletion/duplication analysis
- Congenital Muscular Dystrophy (LAMA2) deletion/duplication analysis
- Duchenne Muscular Dystrophy (DMD) deletion/duplication analysis
- Duchenne Muscular Dystrophy (DMD) gene sequencing
- Calpainopathy/LGMD2A (CAPN3) deletion/duplication analysis
- Dysferlinopathy/LGMD2B (DYSF) deletion/duplication analysis
- Limb-girdle muscular dystrophy (SGCA, SGCB,SGCD, SGCG & FKRP) deletion/duplication analysis
- Muscular dystrophy & congenital myopathy gene panel
- Myotonia congenita gene panel
- Spinal Muscular Atrophy (SMN1/SMN2) deletion/duplication analysis
- Spinal Muscular Atrophy (SMN1) gene analysis
- Charcot-Marie-Tooth type 4 (EGR2, GDAP1, NEFL, PRX) deletion/duplication analysis
- Spinal Muscular Atrophy gene Panel
- PMP22 gene analysis (inflammatory demyelinating polyneuropathy screen)
- Charcot-Marie-Tooth type 4C (SH3TC2) deletion/duplication analysis
- Myotonia congenita (CLCN1) deletion/duplication analysis
- Fukuyama Congenital Muscular Dystrophy (FKTN) gene sequencing (does not include repeat expansions)
- POMT1 deletion/duplication analysis
- Arthrogryposis & congenital myasthenic syndrome gene panel
- Charcot-Marie-Tooth and sensory neuropathies gene panel
- Duchenne muscular dystrophy (DMD) gene analysis
- Muscular dystrophy & congenital myopathy gene panel
- Myotonia congenita gene panel
- Spinal muscular atrophy gene panel (does not include SMN1/SMN2)
- PMP22 gene analysis (inflammatory demyelinating polyneuropathy screen)
- Fukuyama Congenital Muscular Dystrophy (FKTN) gene sequencing (does not include repeat expansions)
Prenatal
Prenatal care is the regular health care women should receive from an obstetrician or midwife during pregnancy. Prenatal development is the growth of a single-celled zygote formed by the combination of a sperm and an egg into a baby. Prenatal diagnosis is diagnosis before birth by techniques such as ultrasound, chorionic villus sampling (CVS), and amniocente+D13sis.
Available Tests
- Carrier screening - Platinum[~2000 recessive genes included in clinical exome & MLPA (SMA, DMD, CYP21A2) ]
- Carrier screening - Silver[100 genes NGS & MLPA (SMA, DMD, CYP21A2)]
- Carrier screening - Gold [500 genes NGS & MLPA (SMA, DMD, CYP21A2)]
- Carrier screening - Platinum [~2000 recessive genes included in clinical exome & MLPA (SMA, DMD, CYP21A2) ]
- Carrier screening - Silver [100 genes NGS & MLPA (SMA, DMD, CYP21A2)]
- Pre-PGD by Sanger/PCR (1 variant) - Prospective parents and one affected kid of the couple(if available)
- Pre-PGD by Sanger/PCR (2 variant) - Prospective parents and one affected kid of the couple(if available)
- PGD by Sanger/PCR (1 variant) - per embryo
- PGD by Sanger/PCR (2 variants) - per embryo
- POC-1st trimester
- POC-2nd trimester
- POC-2nd and 3rd trimester cord / cardiac blood
- Di George / VCF syndrome
- CVS karyotyping only
- Amniotic Fluid karyotyping only
- Cord Blood karyotyping only
- FISH (7 probes - 13,16,18,21,22, sex chromosome)
- FISH (2 probes) (either 13/21 or18/X/Y)
- POC all trimester+ FISH (7 probes)
- CVS karyotyping + FISH (5 probes - 13,18,21, sex chromosomes)
- CVS karyotyping + FISH (2 probes) (either 13/21 or 18/X/Y)
- Amniotic Fluid karyotyping + FISH (5 probes - 13,18,21, sex chromosome)
- Amniotic Fluid karyotyping + FISH(2 probes)(either 13/21 or 18/X/Y]
- Cord Blood karyotyping + FISH (5 probes - 13, 18, 21, sex chromosomes)
- Cord blood karyotyping + FISH (2 probes)(either 13/21 or 18/X/Y)
- FISH(5 probes-13,18,21,sex chromosomes)
- CVS Procedure + Karyotyping
- CVS Procedure + Karyotyping + FISH (5 probes - 13,18,21, sex chromosomes)
- CVS Procedure + Karyotyping + FISH (2 probes) (either 13/21 or 18/X/Y)
- Amniocentesis + Karyotyping
- Amniocentesis + Karyotyping + FISH (5 probes - 13,18,21, sex chromosome)
- Amniocentesis + Karyotyping + FISH(2 probes)(either 13/21 or 18/X/Y]
- Cord Blood Procedure + Karyotyping
- Cord Blood Procedure + Karyotyping + FISH (5 probes - 13, 18, 21, sex chromosomes)
- Cord Blood Procedure + Karyotyping+ FISH (2 probes)(either 13/21 or 18/X/Y)
- PGD by Sanger/PCR (3 variants) - per embryo
- Pre-PGD by Sanger/PCR (3 variants) - Prospective parents and one affected kid of the couple(if available)
- PGD by Sanger/PCR (4 variants) - per embryo
- Pre-PGD by Sanger/PCR (4 variants) - Prospective parents and one affected kid of the couple(if available)
- Claria NIPT
- Pre-PGD for parents and proband (Max 3 samples) - More than 1 variant or multiple Variants in single gene
- PGD per Embryo [NGS]
- PGD for 2 Embryos [NGS]
- PGD for 3 Embryos [NGS]
- PGD for 4 Embryos [NGS]
- PGD for 5 Embryos [NGS]
- MCC [REFLEX] with Clinical Exome - 26MB (80-100x)
- MCC [REFLEX] with Chromosomal Microarray - Affymetrix Cytoscan 750K Genechip
- MCC [REFLEX] with Chromosomal Microarray - Affymetrix Cytoscan Optima low resolution Genechip
- MCC [REFLEX] with Prenatal sanger variant analysis [1 variant]
- MCC [REFLEX] Prenatal sanger variant analysis [Primers available] - 1 variant
- AF Cell Culture (Amniotic fluid only)
- AF Cell Culture (Amniotic fluid only) with Clinical Exome - 26MB (80-100x)
- AF Cell Culture (Amniotic fluid only) with Chromosomal Microarray - Affymetrix Cytoscan 750K Genechip
- AF Cell Culture (Amniotic fluid only) with Chromosomal Microarray - Affymetrix Cytoscan Optima low resolution Genechip
- AF Cell Culture (Amniotic fluid only) with Sanger variant analysis [1 variant]
- AF Cell Culture (Amniotic fluid only) with Sanger variant analysis [primers available] - 1 variant
- Pre-Implantation Genetic Screening(PGS)
- Claria NIPT Plus
- Carrier screening - Gold[500 genes NGS & MLPA (SMA, DMD, CYP21A2)]
Postnatal
Postnatal is occurring or being after birth specifically of or relating to an infant immediately after birth
Available Tests
- FISH for Williams syndrome
- High Resolution Banding [HRB]
- Prader-Willi/ Angelman syndrome by FISH
Qualitative RT-PCR
quantitation of gene expression in tumor or host cells is of paramount importance for investigating the gene patterns responsible for cancer development, progression and response or resistance to treatment. Quantitative realtime PCR (qrt-PCR) technology has recently reached a level of sensitivity, accuracy and practical ease that supports its use as a routine bioinstrumentation for gene level measurement.
Available Tests
- AML basic panel II by RT-PCR (FLT3, NPM1, C-kit)
- AML Basic Panel III (FLT3, NPM1)
- AML basic panel II by RT-PCR (FLT3, NPM1, C-kit)
Rare Inherited Disorders
Rare diseases (RDs) are the clinical conditions affecting a few percentage of individuals in a general population compared to other diseases. Limited clinical information and a lack of reliable epidemiological data make their timely diagnosis and therapeutic management difficult.
Available Tests
- Cystic fibrosis (CFTR) gene analysis
- Cystic fibrosis (CFTR) del508 mutation analysis
- Cystic fibrosis (CFTR) gene panel deletion/duplication analysis
- Newborn screening gene panel
- Blooms syndrome
- Cockayne syndrome gene panel
- Bardet-Biedl syndrome gene panel
- Ciliopathy gene panel
- Cohen's syndrome (VPS13B) gene analysis
- Cornelia de Lange syndrome gene panel
- Noonan syndrome gene panel
- Pallister Hall syndrome (GLI3) gene analysis
- Craniosynostosis gene panel
- Smith-Lemli-Opitz syndrome (DHCR7) gene analysis
- Sotos syndrome gene panel
- Sotos syndrome (NSD1) deletion/duplication analysis
- Non-immune hydrops gene panel
- WAGR syndrome (PAX6) deletion/duplication analysis
- Cantu syndrome (ABCC9) gene sequencing
- Rasopathy gene panel
- Fraser syndrome gene panel
- Pulmonary alveolar microlithiasis (SLC34A2) gene analysis
- Seckel syndrome gene panel
- Beckwith-Wiedemann syndrome deletion/duplication analysis
- Klippel-Feil syndrome gene panel
- Prader-Willi/Angelman syndrome deletion/duplication analysis
- Pulmonary surfactant metabolism dysfunction gene panel
- DiGeorge syndrome deletion/duplication analysis
- Subtelomere deletion/duplication analysis
- Aneuploidy MLPA
- POLG gene sequencing
- PDGFRB gene sequencing
- TTN gene sequencing
- Johanson-Blizzard syndrome (UBR1) gene analysis
- MLPA for common microdeletion syndromes
- Cystic fibrosis (CFTR) gene analysis
- Cockayne syndrome gene panel
- Bardet-Biedl syndrome gene panel
- Ciliopathy gene panel
- Cohen's syndrome (VPS13B) gene analysis
- Cornelia de Lange syndrome gene panel
- Noonan syndrome gene panel
- Pallister Hall syndrome (GLI3) gene analysis
- Craniosynostosis gene panel
- Smith-Lemli-Opitz syndrome (DHCR7) gene analysis
- Sotos syndrome gene panel
- Non-immune hydrops gene panel
- Cantu syndrome (ABCC9) gene analysis
- Rasopathy gene panel
- Fraser syndrome gene panel
- Pulmonary alveolar microlithiasis (SLC34A2) gene analysis
- Seckel syndrome gene panel
- Klippel-Feil syndrome gene panel
- Pulmonary surfactant metabolism dysfunction gene panel
- POLG gene analysis
- PDGFRB gene sequencing
- TTN gene sequencing
- Johanson-Blizzard syndrome (UBR1) gene analysis
Skeletal Dysplasia
Skeletal dysplasia is the medical term for a group of about 400 conditions that affect bone development, neurological function and cartilage growth, including its most common form, achondroplasia.
Available Tests
- Achondroplasia (FGFR3) gene analysis
- Osteogenesis imperfecta gene panel
- Osteopetrosis gene panel
- Pachydermoperiostosis & primary hypertrophic osteoarthropathy gene panel
- Skeletal dysplasia gene panel
- Hereditary multiple exostoses gene panel
- Achondroplasia (FGFR3) gene analysis
- Osteogenesis imperfecta gene panel
- Osteopetrosis gene panel
- Pachydermoperiostosis & primary hypertrophic osteoarthropathy gene panel
- Skeletal dysplasia gene panel
- Hereditary multiple exostoses gene panel
Systemic Infection Panel
A patented technology that comprises of rapid multiplex amplification and accurate identification of the virulence associated genes of the causative agents or organisms. This amazingly fast and accurate platform transcends all conventional diagnostic tests and helpful when organisms are difficult to cultivate or difficult to find.
Available Tests
- SES Sepsis
- SES Antibiotic Resistance Markers (ABR)
- SES Sepsis + ABR
- SES Post Transplant/ Febrile Neutropenia/ Pneumonia
- SES Post Transplant/ Febrile Neutropenia + ABR
- SES Transplant Viral
- SES Respiratory Viral
- SES Mycobacteria
- SES MDR Tuberculosis
- SES Community Acquired Pneumonia (CAP)
- NAAT CheX Dengue Virus
