Service | Specimen required | TAT | View Brochure |
Non Invasive Prenatal Testing | Blood in streck tube | 3-4 weeks | |
Newborn screening test | Heel prick, cord blood, blood in EDTA | 3-4 weeks | |
HPV high risk | Cervical swab | 7-10 days | |
FSHR Gene Mutation test | Blood in EDTA | 15-20 days | |
Congenital hearing loss | Blood in EDTA | 3-4 Weeks | |
Genetic Carrier screening | Blood in EDTA | 3-4 Weeks | |
Clinical Exome Sequencing | Peripheral blood | 4 Weeks | |
Whole Exome Sequencing | Peripheral blood/Amniotic Fluid/ Chorionic villus sampling | 4 Weeks | |
BRCA Sanger sequencing | FFPE/blood | 10 days | |
MTHFR mutation analysis | Blood/FFPE | 10 days | |
Chromosomal Microarray Analysis | POC and Maternal blood | 10 days | |
Sperm DNA methylation | Semen | 10 days | |
H1N1 | Nasopharyngeal/oropharyngeal swab | 3 days | |
MSI-fragment analysis | Peripheral Blood | 10 days | |
KRAS mutation | Peripheral Blood | 10 days | |
EGFR | Blood/FFPE Block | 10 days | |
Nutrigenomics | Peripheral Blood | 15 days | |
Nutrigenomics Diet + fitness | Peripheral Blood | 15 days | |
ALK 1 | Blood/FFPE Block | 10 days | |
ALK + EGFR | Blood/FFPE Block | 10 days | |
TB-PCR | Sputum/endometrial biopsy | 15 days | |
HIV | Peripheral blood | 3-4 days | |
PDL-1 | FFPE | 7 days | |
HBV (DNA PCR) | Peripheral blood | 3-4 days | |
HPV | Cervical swab | 10 days | |
DNA Extraction only | Blood/FFPE | 2 days | |
DNA Extraction + 2 years Storage | Blood | 2 days | |
DNA Extraction only | Tissue sample | 2 days | |
DNA Extraction + 2 years Storage | Product of Conception | 2 days | |
Factor V Leiden | Blood | 7 days | |
Preimplantation genetic testing for aneuploidy (PGT-A) | Embryo Biopsy | 3-4 weeks | |
Fragile X | Whole Blood | 10 days | |
Chromosomal Microarray | Blood, POC | 3-4 weeks | |
Respiratory pathogen panel | Naso-oropharyngeal swab | 24 hours | |
Sanger sequencing | Extracted DNA, PCR product | 15-20 days | |
Thrombophilia | Blood in EDTA | 7-10 days | |
Y-chromosome microdeletion | Blood in EDTA | 7-10 days | |
Achalasia-Addisonianism-Alacrima Syndrome | Blood | 4 Weeks | |
Harlequin ichthyosis | Blood | 4 Weeks | |
Stargardt Disease, Type 1 | Blood | 4 Weeks | |
Progressive Familial Intrahepatic Cholestasis, Type 2 | Blood | 4 Weeks | |
Progressive Familial Intrahepatic Cholestasis, Type 3 | Blood | 4 Weeks | |
Pseudoxanthoma elasticum | Blood | 4 Weeks | |
Familial Hyperinsulinism, ABCC8-Related | Blood | 4 Weeks | |
Adrenoleukodystrophy, X-Linked | Blood | 4 Weeks | |
Mitochondrial Complex I Deficiency, ACAD9-Related | Blood | 4 Weeks | |
Medium Chain Acyl-CoA Dehydrogenase Deficiency | Blood | 4 Weeks | |
Short Chain Acyl-CoA Dehydrogenase Deficiency | Blood | 4 Weeks | |
Short/branched chain acyl-CoA dehydrogenase | Blood | 4 Weeks | |
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency | Blood | 4 Weeks | |
Beta-Ketothiolase Deficiency | Blood | 4 Weeks | |
Acyl-CoA Oxidase I Deficiency | Blood | 4 Weeks | |
Combined Malonic and Methylmalonic Aciduria | Blood | 4 Weeks | |
Severe Combined Immunodeficiency, ADA-Related | Blood | 4 Weeks | |
Ehlers-Danlos Syndrome, Type VIIC | Blood | 4 Weeks | |
Bilateral Frontoparietal Polymicrogyria | Blood | 4 Weeks | |
Aspartylglucosaminuria | Blood | 4 Weeks | |
Glycogen Storage Disease, Type III (Cori/Forbes) | Blood | 4 Weeks | |
Rhizomelic Chondrodysplasia Punctata, Type 3 | Blood | 4 Weeks | |
Hyperoxaluria, Primary, Type 1 | Blood | 4 Weeks | |
Autoimmune polyendocrinopathy syndrome, type I | Blood | 4 Weeks | |
Sjogren-Larsson Syndrome | Blood | 4 Weeks | |
Pyridoxine-dependent epilepsy | Blood | 4 Weeks | |
Hereditary Fructose Intolerance | Blood | 4 Weeks | |
Congenital Disorder of Glycosylation, Type 1C | Blood | 4 Weeks | |
Alstrom Syndrome | Blood | 4 Weeks | |
Hypophosphatasia, ALPL-Related | Blood | 4 Weeks | |
Persistent Müllerian duct syndrome type 1 | Blood | 4 Weeks | |
Persistent Müllerian duct syndrome type 2 | Blood | 4 Weeks | |
Glycine Encephalopathy, AMT-Related | Blood | 4 Weeks | |
Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK) | Blood | 4 Weeks | |
Familial Nephrogenic Diabetes Insipidus, AQP2-Related | Blood | 4 Weeks | |
Androgen insensitivity syndrome, X-Linked | Blood | 4 Weeks | |
Argininemia | Blood | 4 Weeks | |
Metachromatic Leukodystrophy, ARSA-Related | Blood | 4 Weeks | |
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy) | Blood | 4 Weeks | |
Argininosuccinate Lyase Deficiency | Blood | 4 Weeks | |
Asparagine Synthetase Deficiency | Blood | 4 Weeks | |
Canavan Disease | Blood | 4 Weeks | |
Citrullinemia, Type 1 | Blood | 4 Weeks | |
Ataxia-Telangiectasia | Blood | 4 Weeks | |
Renal Tubular Acidosis and Deafness, ATP6V1B1-Related | Blood | 4 Weeks | |
Menkes Syndrome, X-Linked | Blood | 4 Weeks | |
Wilson Disease | Blood | 4 Weeks | |
Progressive Familial Intrahepatic Cholestasis, Type 1 | Blood | 4 Weeks | |
Alpha-Thalassemia Intellectual Disability Syndrome, X-Linked | Blood | 4 Weeks | |
Bardet-Biedl Syndrome 1 | Blood | 4 Weeks | |
Bardet-Biedl Syndrome 10 | Blood | 4 Weeks | |
Bardet-Biedl Syndrome 12 | Blood | 4 Weeks | |
Bardet-Biedl Syndrome 2 | Blood | 4 Weeks | |
Bardet-Biedl Syndrome 4 | Blood | 4 Weeks | |
Bardet-Biedl Syndrome 9 | Blood | 4 Weeks | |
Pseudocholinesterase Deficiency | Blood | 4 Weeks | |
Maple Syrup Urine Disease, Type 1A | Blood | 4 Weeks | |
Maple Syrup Urine Disease, Type 1B | Blood | 4 Weeks | |
GRACILE Syndrome | Blood | 4 Weeks | |
Bloom Syndrome | Blood | 4 Weeks | |
Fanconi anemia, Group J | Blood | 4 Weeks | |
Bartter syndrome, Type 4a | Blood | 4 Weeks | |
Biotinidase Deficiency | Blood | 4 Weeks | |
Isolated growth hormone deficiency, Type III, X-linked | Blood | 4 Weeks | |
Desbuquois dysplasia 1 | Blood | 4 Weeks | |
Limb-Girdle Muscular Dystrophy, Type 2A | Blood | 4 Weeks | |
Catecholaminergic polymorphic ventricular tachycardia | Blood | 4 Weeks | |
Homocystinuria, CBS-Related | Blood | 4 Weeks | |
Mental retardation, autosomal recessive 3 | Blood | 4 Weeks | |
Usher Syndrome, Type 1D | Blood | 4 Weeks | |
Leber Congenital Amaurosis, Type CEP290 | Blood | 4 Weeks | |
Retinitis Pigmentosa 26 | Blood | 4 Weeks | |
Cystic Fibrosis | Blood | 4 Weeks | |
Choroideremia, X-Linked | Blood | 4 Weeks | |
Congenital Myasthenic Syndrome, CHRNE-Related | Blood | 4 Weeks | |
Escobar Syndrome | Blood | 4 Weeks | |
Bare Lymphocyte Syndrome, CIITA-Related | Blood | 4 Weeks | |
Ceroid Lipofuscinosis, Neuronal, 3 | Blood | 4 Weeks | |
Ceroid Lipofuscinosis, Neuronal, 5 | Blood | 4 Weeks | |
Ceroid Lipofuscinosis, Neuronal, 6 | Blood | 4 Weeks | |
Ceroid Lipofuscinosis, Neuronal, 8 (a.ka. Northern Epilepsy) | Blood | 4 Weeks | |
Usher Syndrome, Type 3 | Blood | 4 Weeks | |
Achromatopsia, CNGA3-Related | Blood | 4 Weeks | |
Achromatopsia, CNGB3-Related | Blood | 4 Weeks | |
Fibrochondrogenesis type 2 | Blood | 4 Weeks | |
Alport Syndrome, COL4A3-Related | Blood | 4 Weeks | |
Alport Syndrome, COL4A4-Related | Blood | 4 Weeks | |
Alport Syndrome, X-Linked | Blood | 4 Weeks | |
Dystrophic Epidermolysis Bullosa, COL7A1-Related | Blood | 4 Weeks | |
Carbamoyl Phosphate Synthetase I Deficiency | Blood | 4 Weeks | |
Carnitine Palmitoyltransferase IA Deficiency | Blood | 4 Weeks | |
Carnitine Palmitoyltransferase II Deficiency | Blood | 4 Weeks | |
Leber congenital amaurosis 8 | Blood | 4 Weeks | |
Cystinosis | Blood | 4 Weeks | |
Papillon-Lefevre Syndrome | Blood | 4 Weeks | |
Ceroid Lipofuscinosis, Neuronal, 10 (CLN10 Disease) | Blood | 4 Weeks | |
Pycnodysostosis | Blood | 4 Weeks | |
Chronic Granulomatous Disease, CYBA-Related | Blood | 4 Weeks | |
Chronic Granulomatous Disease, X-Linked | Blood | 4 Weeks | |
Congenital Adrenal Hyperplasia, 11-beta-hydroxylase-deficient | Blood | 4 Weeks | |
Corticosterone Methyloxidase Deficiency | Blood | 4 Weeks | |
Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency | Blood | 4 Weeks | |
Aromatase Deficiency | Blood | 4 Weeks | |
Primary Congenital Glaucoma | Blood | 4 Weeks | |
Congenital Adrenal Hyperplasia, 21-hydroxylase-deficient | Blood | 4 Weeks | |
Cerebrotendinous Xanthomatosis | Blood | 4 Weeks | |
Vitamin D-dependent rickets type 1A | Blood | 4 Weeks | |
Maple Syrup Urine Disease, Type 2 | Blood | 4 Weeks | |
Severe Combined Immunodeficiency, Type Athabaskan | Blood | 4 Weeks | |
Xeroderma Pigmentosum Group E | Blood | 4 Weeks | |
Smith-Lemli-Opitz Syndrome | Blood | 4 Weeks | |
Retinitis Pigmentosa 59 | Blood | 4 Weeks | |
Dyskeratosis congenita, X-Linked | Blood | 4 Weeks | |
Dihydrolipoamide Dehydrogenase Deficiency | Blood | 4 Weeks | |
Duchenne/Becker Muscular Dystrophy | Blood | 4 Weeks | |
Ciliary Dyskinesia, Primary 3 | Blood | 4 Weeks | |
Ciliary Dyskinesia, Primary 1 | Blood | 4 Weeks | |
Ciliary Dyskinesia, Primary 9 | Blood | 4 Weeks | |
Ciliary Dyskinesia, Primary, 16 | Blood | 4 Weeks | |
Congenital Myasthenic Syndrome, DOK7-Related | Blood | 4 Weeks | |
Dihydropyrimidine Dehydrogenase Deficiency | Blood | 4 Weeks | |
Limb-Girdle Muscular Dystrophy, Type 2B | Blood | 4 Weeks | |
Hypohidrotic Ectodermal Dysplasia, X-Linked | Blood | 4 Weeks | |
Hypohidrotic Ectodermal Dysplasia | Blood | 4 Weeks | |
Wolcott-Rallison Syndrome | Blood | 4 Weeks | |
Leukoencephalopathy with Vanishing White Matter | Blood | 4 Weeks | |
Dysautonomia, familial (IKBKAP or ELP1) | Blood | 4 Weeks | |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked | Blood | 4 Weeks | |
Xeroderma Pigmentosum Group D | Blood | 4 Weeks | |
Xeroderma Pigmentosum Group B | Blood | 4 Weeks | |
Xeroderma Pigmentosum Group F | Blood | 4 Weeks | |
Xeroderma pigmentosum Group G | Blood | 4 Weeks | |
Cockayne syndrome, type B | Blood | 4 Weeks | |
Cockayne syndrome, type A | Blood | 4 Weeks | |
Roberts Syndrome | Blood | 4 Weeks | |
Glutaric Acidemia, Type 2A | Blood | 4 Weeks | |
Glutaric Acidemia, Type 2B | Blood | 4 Weeks | |
Glutaric Acidemia, Type 2C | Blood | 4 Weeks | |
Ethylmalonic Encephalopathy | Blood | 4 Weeks | |
Ellis-van Creveld Syndrome, EVC-Related | Blood | 4 Weeks | |
Ellis-van Creveld Syndrome, EVC2-related | Blood | 4 Weeks | |
Pontocerebellar Hypoplasia, Type 1B | Blood | 4 Weeks | |
Retinitis Pigmentosa 25 | Blood | 4 Weeks | |
Factor XI deficiency | Blood | 4 Weeks | |
Prothrombin deficiency | Blood | 4 Weeks | |
Hemophilia A | Blood | 4 Weeks | |
Hemophilia B | Blood | 4 Weeks | |
Tyrosinemia, Type I | Blood | 4 Weeks | |
Retinitis Pigmentosa 28 | Blood | 4 Weeks | |
Fanconi Anemia, Group A | Blood | 4 Weeks | |
Fanconi Anemia, Group C | Blood | 4 Weeks | |
Fanconi Anemia, Group G | Blood | 4 Weeks | |
Fumarase Deficiency | Blood | 4 Weeks | |
Limb-Girdle Muscular Dystrophy, Type 2I | Blood | 4 Weeks | |
Walker-Warburg Syndrome, FKTN-Related | Blood | 4 Weeks | |
Glycogen Storage Disease, Type IA | Blood | 4 Weeks | |
Glucose-6-Phosphate Dehydrogenase Deficiency* | Blood | 4 Weeks | |
Glycogen Storage Disease, Type II (Pompe Disease) | Blood | 4 Weeks | |
Krabbe Disease | Blood | 4 Weeks | |
Galactose epimerase deficiency | Blood | 4 Weeks | |
Galactokinase Deficiency (Galactosemia, Type II) | Blood | 4 Weeks | |
Mucopolysaccharidosis, Type IVA | Blood | 4 Weeks | |
Hyperphosphatemic familial tumoral calcinosis | Blood | 4 Weeks | |
Galactosemia | Blood | 4 Weeks | |
Guanidinoacetate Methyltransferase Deficiency | Blood | 4 Weeks | |
Gaucher Disease | Blood | 4 Weeks | |
Glycogen Storage Disease, Type IV | Blood | 4 Weeks | |
Glutaric Acidemia, Type 1 | Blood | 4 Weeks | |
Dopa-responsive dystonia | Blood | 4 Weeks | |
Grebe syndrome | Blood | 4 Weeks | |
Combined Oxidative Phosphorylation Deficiency 1 | Blood | 4 Weeks | |
Isolated growth hormone deficiency, Type IA/II | Blood | 4 Weeks | |
Isolated growth hormone deficiency, Type IB | Blood | 4 Weeks | |
Charcot-Marie-Tooth Disease with Deafness, X-Linked | Blood | 4 Weeks | |
Non-Syndromic Hearing Loss (a.k.a. Connexin 26) | Blood | 4 Weeks | |
Erythrokeratodermia variabilis et progressiva | Blood | 4 Weeks | |
Non-Syndromic Hearing Loss (a.k.a. Connexin 30) | Blood | 4 Weeks | |
Fabry Disease | Blood | 4 Weeks | |
Mucopolysaccharidosis, Type IVB / GM1 Gangliosidosis | Blood | 4 Weeks | |
Glycine Encephalopathy, GLDC-Related | Blood | 4 Weeks | |
Lethal Congenital Contracture Syndrome 1 | Blood | 4 Weeks | |
Inclusion Body Myopathy 2 | Blood | 4 Weeks | |
Mucolipidosis II/IIIA | Blood | 4 Weeks | |
Mucolipidosis III gamma | Blood | 4 Weeks | |
Mucopolysaccharidosis, Type IIID (Sanfilippo D) | Blood | 4 Weeks | |
Geroderma osteodysplastica | Blood | 4 Weeks | |
Bernard-Soulier Syndrome, Type A2 | Blood | 4 Weeks | |
Bernard-Soulier Syndrome, Type B | Blood | 4 Weeks | |
Bernard-Soulier Syndrome, Type C | Blood | 4 Weeks | |
Primary Hyperoxaluria, Type 2 | Blood | 4 Weeks | |
Leber congenital amaurosis 1 | Blood | 4 Weeks | |
Mucopolysaccharidosis, Type VII | Blood | 4 Weeks | |
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | Blood | 4 Weeks | |
Trifunctional protein deficiency | Blood | 4 Weeks | |
Congenital Neutropenia, HAX1-Related | Blood | 4 Weeks | |
Alpha-Thalassemia | Blood | 4 Weeks | |
Alpha-Thalassemia | Blood | 4 Weeks | |
Beta-Hemoglobinopathies | Blood | 4 Weeks | |
Tay-Sachs Disease | Blood | 4 Weeks | |
Sandhoff Disease | Blood | 4 Weeks | |
Hemochromatosis, Type 1 | Blood | 4 Weeks | |
Hemochromatosis, Type 2A | Blood | 4 Weeks | |
Alkaptonuria | Blood | 4 Weeks | |
Mucopolysaccharidosis, Type IIIC (Sanfilippo C) | Blood | 4 Weeks | |
Holocarboxylase Synthetase Deficiency | Blood | 4 Weeks | |
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency | Blood | 4 Weeks | |
Heme Oxygenase-1 Deficiency | Blood | 4 Weeks | |
Primary Hyperoxaluria, Type 3 | Blood | 4 Weeks | |
Tyrosinemia, Type III | Blood | 4 Weeks | |
Hermansky-Pudlak Syndrome 1 | Blood | 4 Weeks | |
Hermansky-Pudlak Syndrome 3 | Blood | 4 Weeks | |
Hermansky-Pudlak syndrome 4 | Blood | 4 Weeks | |
17-beta hydroxysteroid dehydrogenase 3 deficiency | Blood | 4 Weeks | |
D-Bifunctional Protein Deficiency | Blood | 4 Weeks | |
3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency | Blood | 4 Weeks | |
Hydrolethalus Syndrome | Blood | 4 Weeks | |
Mucopolysaccharidosis, Type II (Hunter Syndrome) | Blood | 4 Weeks | |
Mucopolysaccharidosis, Type I (Hurler Syndrome) | Blood | 4 Weeks | |
Severe Combined Immunodeficiency, X-Linked | Blood | 4 Weeks | |
Glanzmann thrombasthenia | Blood | 4 Weeks | |
Isovaleric Acidemia | Blood | 4 Weeks | |
Congenital Hyperinsulinism, KCNJ11-Related | Blood | 4 Weeks | |
LAMA2-related Muscular Dystrophy | Blood | 4 Weeks | |
Herlitz Junctional Epidermolysis Bullosa, LAMA3-Related | Blood | 4 Weeks | |
Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related | Blood | 4 Weeks | |
Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related | Blood | 4 Weeks | |
Leber Congenital Amaurosis, Type LCA5 | Blood | 4 Weeks | |
Familial Hypercholesterolemia, LDLR-Related | Blood | 4 Weeks | |
Familial Hypercholesterolemia, LDLRAP1-Related | Blood | 4 Weeks | |
Leydig cell hypoplasia | Blood | 4 Weeks | |
Stuve-Wiedemann Syndrome | Blood | 4 Weeks | |
Lysosomal Acid Lipase Deficiency | Blood | 4 Weeks | |
Woolly Hair/Hypotrichosis Syndrome | Blood | 4 Weeks | |
Deafness, Autosomal Recessive 77 | Blood | 4 Weeks | |
Lipoprotein Lipase Deficiency | Blood | 4 Weeks | |
Leigh Syndrome, French-Canadian Type | Blood | 4 Weeks | |
Chediak-Higashi syndrome | Blood | 4 Weeks | |
Alpha-Mannosidosis | Blood | 4 Weeks | |
Hypermethioninemia | Blood | 4 Weeks | |
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency | Blood | 4 Weeks | |
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency | Blood | 4 Weeks | |
Mucolipidosis, Type IV | Blood | 4 Weeks | |
RETT Syndrome | Blood | 4 Weeks | |
Microcephaly, postnatal progressive, with seizures and brain atrophy | Blood | 4 Weeks | |
Familial Mediterranean Fever | Blood | 4 Weeks | |
Spondylothoracic Dysostosis, MESP2-Related | Blood | 4 Weeks | |
Ceroid Lipofuscinosis, Neuronal, 7 | Blood | 4 Weeks | |
Bardet-Biedl Syndrome 6 | Blood | 4 Weeks | |
Meckel-Gruber Syndrome, Type 1 | Blood | 4 Weeks | |
Megalencephalic Leukoencephalopathy with Subcortical Cysts | Blood | 4 Weeks | |
Malonyl-CoA decarboxylase deficiency | Blood | 4 Weeks | |
Methylmalonic Aciduria, MMAA-Related | Blood | 4 Weeks | |
Methylmalonic Aciduria, MMAB-Related | Blood | 4 Weeks | |
Methylmalonic Aciduria and Homocystinuria, Type cblC | Blood | 4 Weeks | |
Methylmalonic Aciduria and Homocystinuria, Type cblD | Blood | 4 Weeks | |
Molybdenum cofactor deficiency | Blood | 4 Weeks | |
Congenital Disorder of Glycosylation, Type 1B | Blood | 4 Weeks | |
Congenital Amegakaryocytic Thrombocytopenia | Blood | 4 Weeks | |
Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related | Blood | 4 Weeks | |
Ataxia-telangiectasia-like disorder 1 | Blood | 4 Weeks | |
Homocystinuria due to Deficiency of MTHFR | Blood | 4 Weeks | |
Myotubular Myopathy, X-Linked | Blood | 4 Weeks | |
Homocystinuria, Type cblE | Blood | 4 Weeks | |
Abetalipoproteinemia | Blood | 4 Weeks | |
Methylmalonic Aciduria, Type mut(0) | Blood | 4 Weeks | |
Deafness, autosomal recessive, 3 | Blood | 4 Weeks | |
Usher Syndrome, Type 1B | Blood | 4 Weeks | |
Mucopolysaccharidosis, Type IIIB (Sanfilippo B) | Blood | 4 Weeks | |
N-acetylglutamate Synthase Deficiency | Blood | 4 Weeks | |
Nijmegen Breakage Syndrome | Blood | 4 Weeks | |
Charcot-Marie-Tooth Disease type 4D | Blood | 4 Weeks | |
Mitochondrial Complex I Deficiency, NDUFAF5-Related | Blood | 4 Weeks | |
Mitochondrial complex I deficiency | Blood | 4 Weeks | |
Mitochondrial Complex I Deficiency, NDUFS6-Related | Blood | 4 Weeks | |
Nemaline Myopathy, NEB-Related | Blood | 4 Weeks | |
Sialidosis | Blood | 4 Weeks | |
Hydatidiform Mole, Recurrent | Blood | 4 Weeks | |
Niemann-Pick Disease, Type C1/D | Blood | 4 Weeks | |
Niemann-Pick Disease, Type C2 | Blood | 4 Weeks | |
Juvenile Nephronophthisis | Blood | 4 Weeks | |
Congenital Finnish Nephrosis | Blood | 4 Weeks | |
Steroid-Resistant Nephrotic Syndrome | Blood | 4 Weeks | |
Congenital Adrenal Hypoplasia, X-linked | Blood | 4 Weeks | |
Enhanced S-Cone Syndrome | Blood | 4 Weeks | |
Congenital Insensitivity to Pain with Anhidrosis (CIPA) | Blood | 4 Weeks | |
Ornithine Aminotransferase Deficiency | Blood | 4 Weeks | |
Lowe syndrome, X-Linked | Blood | 4 Weeks | |
Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3) | Blood | 4 Weeks | |
Ornithine Transcarbamylase Deficiency | Blood | 4 Weeks | |
Phenylketonuria | Blood | 4 Weeks | |
Pantothenate Kinase-Associated Neurodegeneration | Blood | 4 Weeks | |
Pyruvate Carboxylase Deficiency | Blood | 4 Weeks | |
Propionic Acidemia, PCCA-Related | Blood | 4 Weeks | |
Propionic Acidemia, PCCB-Related | Blood | 4 Weeks | |
Usher Syndrome, Type 1F | Blood | 4 Weeks | |
Pyruvate Dehydrogenase Deficiency, X-Linked | Blood | 4 Weeks | |
Pyruvate Dehydrogenase Deficiency, PDHB-Related | Blood | 4 Weeks | |
Prolidase deficiency | Blood | 4 Weeks | |
Cytochrome-c oxidase deficiency | Blood | 4 Weeks | |
Peroxisome Biogenesis Disorder 1A (Zellweger) | Blood | 4 Weeks | |
Peroxisome Biogenesis Disorder 6A (Zellweger) | Blood | 4 Weeks | |
Peroxisome Biogenesis Disorder 3A (Zellweger) | Blood | 4 Weeks | |
Peroxisome Biogenesis Disorder 5A (Zellweger) | Blood | 4 Weeks | |
Peroxisome Biogenesis Disorder 4A (Zellweger) | Blood | 4 Weeks | |
Rhizomelic Chondrodysplasia Punctata, Type 1 | Blood | 4 Weeks | |
Glycogen Storage Disease, Type VII | Blood | 4 Weeks | |
Phosphoglycerate Dehydrogenase Deficiency | Blood | 4 Weeks | |
Multiple congenital anomalies-hypotonia-seizures syndrome 1 | Blood | 4 Weeks | |
Polycystic Kidney Disease, Autosomal Recessive | Blood | 4 Weeks | |
Infantile neuroaxonal dystrophy 1 | Blood | 4 Weeks | |
Congenital Disorder of Glycosylation, Type 1A, PMM2-Related | Blood | 4 Weeks | |
Pyridoxal 5'-phosphate-dependent epilepsy | Blood | 4 Weeks | |
POLG-Related Disorders | Blood | 4 Weeks | |
Xeroderma pigmentosum Variant | Blood | 4 Weeks | |
Muscle-Eye-Brain Disease, POMGNT1-Related | Blood | 4 Weeks | |
Cytochrome P450 oxidoreductase deficiency | Blood | 4 Weeks | |
Ceroid Lipofuscinosis, Neuronal, 1 | Blood | 4 Weeks | |
Myasthenic syndrome, congenital, 22 | Blood | 4 Weeks | |
Combined Pituitary Hormone Deficiency 2 | Blood | 4 Weeks | |
Arts syndrome, X-Linked | Blood | 4 Weeks | |
Metachromatic Leukodystrophy, PSAP-Related | Blood | 4 Weeks | |
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency | Blood | 4 Weeks | |
Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1) | Blood | 4 Weeks | |
Glycogen Storage Disease, Type V (McArdle Disease) | Blood | 4 Weeks | |
Carpenter Syndrome | Blood | 4 Weeks | |
Omenn Syndrome, RAG1-Related | Blood | 4 Weeks | |
Omenn Syndrome, RAG2-Related | Blood | 4 Weeks | |
Congenital Myasthenic Syndrome, RAPSN-Related | Blood | 4 Weeks | |
Pontocerebellar Hypoplasia, Type 1 and 6, RARS2-Related | Blood | 4 Weeks | |
Leber Congenital Amaurosis, Type RDH12 | Blood | 4 Weeks | |
Retinal Dystrophies, RLBP1-Associated | Blood | 4 Weeks | |
Cartilage-Hair Hypoplasia | Blood | 4 Weeks | |
Aicardi-Goutieres syndrome, RNASEH2C-related | Blood | 4 Weeks | |
Leber Congenital Amaurosis 2 | Blood | 4 Weeks | |
Ciliopathies, RPGRIP1L-Related | Blood | 4 Weeks | |
Juvenile Retinoschisis, X-Linked | Blood | 4 Weeks | |
Dyskeratosis Congenita, RTEL1-Related | Blood | 4 Weeks | |
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay | Blood | 4 Weeks | |
MIRAGE syndrome | Blood | 4 Weeks | |
Aicardi-Goutires Syndrome | Blood | 4 Weeks | |
Shwachman-Diamond syndrome | Blood | 4 Weeks | |
Pontocerebellar Hypoplasia, Type 2D | Blood | 4 Weeks | |
Alpha-1-Antitrypsin Deficiency | Blood | 4 Weeks | |
Limb-Girdle Muscular Dystrophy, Type 2D | Blood | 4 Weeks | |
Limb-Girdle Muscular Dystrophy, Type 2E | Blood | 4 Weeks | |
Limb-Girdle Muscular Dystrophy, Type 2F | Blood | 4 Weeks | |
Limb-Girdle Muscular Dystrophy, Type 2C | Blood | 4 Weeks | |
Mucopolysaccharidosis, Type IIIA (Sanfilippo A) | Blood | 4 Weeks | |
Gitelman Syndrome | Blood | 4 Weeks | |
Agenesis of the Corpus Callosum with Peripheral Neuropathy (Andermann Syndrome) | Blood | 4 Weeks | |
Salla Disease | Blood | 4 Weeks | |
Megaloblastic Anemia Syndrome | Blood | 4 Weeks | |
Carnitine Deficiency | Blood | 4 Weeks | |
Citrullinemia, Type II | Blood | 4 Weeks | |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome | Blood | 4 Weeks | |
Carnitine-acylcarnitine translocase deficiency | Blood | 4 Weeks | |
Achondrogenesis, Type 1B | Blood | 4 Weeks | |
Congenital Chloride Diarrhea | Blood | 4 Weeks | |
Pendred Syndrome | Blood | 4 Weeks | |
Autism Spectrum, Epilepsy and Arthrogryposis | Blood | 4 Weeks | |
Glycogen Storage Disease, Type IB | Blood | 4 Weeks | |
Acrodermatitis Enteropathica | Blood | 4 Weeks | |
Cystinuria, Type A | Blood | 4 Weeks | |
Oculocutaneous albinism, Type 4 | Blood | 4 Weeks | |
Corneal Dystrophy and Perceptive Deafness | Blood | 4 Weeks | |
Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, X-Linked) | Blood | 4 Weeks | |
Lysinuric Protein Intolerance | Blood | 4 Weeks | |
Cystinuria, Type B | Blood | 4 Weeks | |
Schimke Immunoosseous Dysplasia | Blood | 4 Weeks | |
Spinal Muscular Atrophy | Blood | 4 Weeks | |
Niemann-Pick Disease, Types A/B | Blood | 4 Weeks | |
5-alpha reductase deficiency | Blood | 4 Weeks | |
GM3 synthase deficiency | Blood | 4 Weeks | |
Lipoid Congenital Adrenal Hyperplasia | Blood | 4 Weeks | |
Deafness, autosomal recessive 16 | Blood | 4 Weeks | |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | Blood | 4 Weeks | |
Multiple Sulfatase Deficiency | Blood | 4 Weeks | |
Leigh Syndrome | Blood | 4 Weeks | |
Tyrosinemia, Type II | Blood | 4 Weeks | |
Osteopetrosis, Infantile Malignant, TCIRG1-Related | Blood | 4 Weeks | |
Hereditary Spastic Paraparesis, Type 49 | Blood | 4 Weeks | |
Hemochromatosis, Type 3, TFR2-Related | Blood | 4 Weeks | |
Lamellar Ichthyosis, Type 1 | Blood | 4 Weeks | |
Segawa Syndrome, TH-Related | Blood | 4 Weeks | |
Deafness, autosomal dominant 36, autosomal recessive 7 | Blood | 4 Weeks | |
Joubert Syndrome 2 / Meckel Syndrome 2 | Blood | 4 Weeks | |
Congenital hypothyroidism | Blood | 4 Weeks | |
Ceroid Lipofuscinosis, Neuronal, 2 | Blood | 4 Weeks | |
Aicardi-Goutieres syndrome, TREX1-related | Blood | 4 Weeks | |
Bardet-Biedl syndrome 11 | Blood | 4 Weeks | |
Mulibrey nanism syndrome | Blood | 4 Weeks | |
Acute Infantile Liver Failure, TRMU-Related | Blood | 4 Weeks | |
Pontocerebellar hypoplasia | Blood | 4 Weeks | |
Combined Oxidative Phosphorylation Deficiency 3 | Blood | 4 Weeks | |
Congenital hypothyroidism | Blood | 4 Weeks | |
Hypothyroidism, congenital, nongoitrous, 1 | Blood | 4 Weeks | |
Tricho-Hepato-Enteric Syndrome | Blood | 4 Weeks | |
Familial dilated cardiomyopathy | Blood | 4 Weeks | |
Ataxia with Vitamin E Deficiency | Blood | 4 Weeks | |
Myoneurogastrointestinal Encephalopathy (MNGIE) | Blood | 4 Weeks | |
Oculocutaneous Albinism, Type 1 | Blood | 4 Weeks | |
Oculocutaneous albinism, Type 3 | Blood | 4 Weeks | |
Crigler-Najjar Syndrome | Blood | 4 Weeks | |
Beta-ureidopropionase deficiency | Blood | 4 Weeks | |
Usher Syndrome, Type 1C | Blood | 4 Weeks | |
Usher Syndrome, Type 2A | Blood | 4 Weeks | |
Choreo-acanthocytosis | Blood | 4 Weeks | |
Cohen Syndrome | Blood | 4 Weeks | |
Congenital Neutropenia, VPS45-Related | Blood | 4 Weeks | |
Pontocerebellar Hypoplasia, Type 2E | Blood | 4 Weeks | |
Pontocerebellar Hypoplasia, Type 1A | Blood | 4 Weeks | |
Microphthalmia/Anophthalmia, VSX2-Related | Blood | 4 Weeks | |
Von Willebrand disease | Blood | 4 Weeks | |
Wiskott-Aldrich syndrome, X-Linked | Blood | 4 Weeks | |
Progressive Pseudorheumatoid Dysplasia | Blood | 4 Weeks | |
Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome | Blood | 4 Weeks | |
Werner Syndrome | Blood | 4 Weeks | |
Xeroderma pigmentosum Group A | Blood | 4 Weeks | |
Xeroderma Pigmentosum Group C | Blood | 4 Weeks | |
Spastic Paraplegia Type 15 | Blood | 4 Weeks | |
Greenarray has state of the art laboratory with high quality standards. The laboratory has advanced set up for molecular testing and diagnostic requirements. The lab has cutting-edge sequencing technologies like PCR equipment, Sanger sequencer, Microarray.
We offer DNA and RNA extraction services from different samples like environmental and clinical and their storage at -20 an -80°C.
Ribosomal RNA (rRNA) gene sequence of bacteria is one of the most reliable molecular methods of microbial identification. Greenarray offers this sequencing service for identifying bacteria with the help of universal 16S rRNA primers.
18S rRNA gene has conserved and variable regions and widely used in molecular analysis to reconstruct the evolutionary history of organisms, especially in vertebrates, as its slow evolutionary rate makes it suitable to phylogenetic studies.
The nuclear ribosomal internal transcribed spacer (ITS) region is the most commonly chosen genetic marker for the molecular identification of fungi in environmental sequencing and molecular ecology studies.
rbcL and matK are the core chloroplast genes of plant species. rbcL genes have are used for phylogenetic analysis within family and subclass of angiosperm. matK is a single-copy and one of the fastest evolving genes used for studies of systematic and evolutionary botany
Quantitative fluorescent polymerase chain reaction (QF-PCR) provides a targeted and rapid diagnosis of chromosomal abnormalities. It has the advantages over the cytogenetic culture of being faster with the results appearing within 24–48 hours.
For animal identification, the most broadly used barcode marker is mitochondrial cytochrome c oxidase subunit I (COI), which is highly conserved across species employing oxidative phosphorylation for metabolism.
COI-based DNA barcoding can delimit diverse animal species, indicating the high rates of sequence change at species level and constraints on intraspecific divergence in COI sequence
(a 658-bp region of COI gene)
Targeted gene sequencing are useful tools for analysing specific mutations in the gene of interest of given sample. Identifying heterozygous base positions or small insertions or deletions in genomic DNA is often employed to locate mutations or polymorphisms in diploid organisms. Targeted gene sequencing may contain set of genes or single gene regions that have known or suspected associations with the disease or phenotype under study. The gene of interest that can be analysed up to 1200bp region.
Microsatellite markers are co-dominant, polymorphic DNA loci containing repeated nucleotide sequences, typically with 2 to 10 nucleotides per repeated unit. The number of nucleotides in the repeated unit is the same for the majority of the repeats within an individual microsatellite locus, but the number of repeats for a specific locus may differ, resulting in alleles of varying length, which can be analysed with fragment analysis by capillary electrophoresis.