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Inherited Genetic Disorders

Comprehensive Genetic Tests to screen for more than 500 diseases

Available Tests

Test Code Description Methodology TAT Sample Details Transportation
RCL101 Clinical Exome Sequencing (appx. 6000 Genes) Proband Only NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL102 Clinical Exome Sequencing (appx. 6000 Genes) Trios NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL103 Neurodegenerative Disorders Panel (590 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL104 Dementia Panel (47 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL105 Alzheimer Panel (9 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL106 Amyotrophic Lateral Sclerosis Panel (9 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL107 Spinocerebellar Ataxia Panel (24 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL108 Cmt Neuropathy Demyelinating Panel (32 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL109 Holoprosencephaly Panel (8 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL110 Mental Retardation, X-Linked Panel (91 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL111 Congenital Myopathy Panel (143 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL112 Autism Panel (111 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL113 ATRX Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL114 Brown Vialetto Van Laere Syndrome Gene Panel (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL115 Comprehensive Neurology Panel (403 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL116 Familial Hemiplegic Migraine Panel (4 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL117 Lissencephaly Gene Panel (11 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL118 Microcephaly Gene Panel (23 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL119 MECP2 Gene Sequencing (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL120 Neuronal Migration Disorder Gene Panel (53 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL121 Pontocerebellar Hypoplasia Gene Panel (16 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL122 Rett Syndrome Gene Panel (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL123 Aicardi-Goutieres Syndrome Gene Panel (7 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL124 Beningn Infantile Epilepsy Gene Panel (4 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL125 Dravet Syndrome (SCN1A) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL126 Epileptic Encephalopathy Gene Panel (88 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL127 Familial Female Mental Retardation/Epilepsy Gene Panel (18 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL128 Progressive Myoclonic Epilepsy Gene Panel (11 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL129 TBC1D24 Gene Analysis (1 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL130 Ataxia-Telangectasia Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL131 Dystonia Gene Panel (26 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL132 Early Onset Juvenile Parkinsonism Gene Panel (6 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL133 Episodic Ataxia Gene Panel (7 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL134 Hereditary Spastic Paraplegia Gene Panel (67 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL135 Hyperekplexia Gene Panel (4 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL136 Neurotransmitter Disorders Gene Panel (24 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL137 Neurofibromatosis (Nf1 And Nf2) Gene Analysis (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL138 TSC1 And TSC2 Gene Analysis (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL139 Neurofibromatosis Type 2 (Nf2) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL140 4H Syndrome Gene Panel (3 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL141 Adreno Leukodystrophy (Abcd1) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL142 Alexander Disease (GFAP) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL143 Alkaptonuria (HGD) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL144 Canavan Disease (ASPA) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL145 Cystic Megalencephaly (MLC1) Gene Analysis (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL146 Giant Axonal Neuropathy-1(Gan) Gene Analysis (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL147 Hypomyelination Syndrome Gene Panel (26 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL148 Joubert Syndrome Gene Panel (23 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL149 Krabbe Disease (Galc) Gene Panel (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL150 Leukodystrophy Gene Panel (293 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL151 Metachromatic Leukodystrophy Gene Panel (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL152 Neuronal Ceroid Lipofuscinosis Gene Panel (32 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL153 Notch3(Cada-Sil) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL154 Neurodegeneration With Brain Iron Accumulation Gene Panel (32 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL155 Tay-Sachs Disease (HEXA) Gene Panel (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL156 Myasthenic Syndrome Gene Panel (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL157 Charcot-Marie-Tooth And Sensory Neuropathies Gene Panel (35 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL158 Duchenne Muscular Dystrophy (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL159 Fukuyama Congenital Muscular Dystrophy (Fktn) Gene Sequencing (Does Not Include Repeat Expansions (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL160 Muscular Dystrophy And Congenital Myopathy Gene Panel (36 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL161 Myotonia Congenita Gene Panel (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL162 PMP22 Gene Analysis (Inflammatory Demyelinating Polyneuropathy Screen) (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL163 Spinal Muscular Atrophy Gene Panel (Does Not Include Smn1/Smn2) (16 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL164 Mody Panel (27 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL165 Type 2 Diabetes Panel (7 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL166 Obesity Panel (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL167 Organic Acidurias Panel (41 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL168 Mitochondriopathy Panel (161 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL169 Lysosomal Storage Disorders Panel (116 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL170 Glycosylation Panel Panel (27 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL171 Metabolic Myopathy Panel (26 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL172 Familial Hypercholesterolemia Panel (17 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL173 Alpha-Mannosidosis (MAN2B1) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL174 Biotinidase Deficiency (BTD) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL175 Citrullinemia Gene Panel (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL176 Fabry Disease (GLA) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL177 Fanconibickel Syndrome (SlCA2A2) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL178 Farber Lipogranulomatosis (ASAH1) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL179 Fatty Acid Oxidation Disorders Gene Panel (15 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL180 Fucosidosis (FUCA1) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL181 Galactosemia (GALT) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL182 Galactosialidosis (CTSA) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL183 Gaucher Disease (GBA) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL184 Glut1 Deficiency/(SlCA2A1) Deletion/Duplication Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL185 Glycine Encephalopathy Gene Panel (4 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL186 Glycogen Storage Disorder Gene Panel (6 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL187 Gm1 Gangliosidosis/Mucopolysacchar -Idosis Type Ivb (GLB1) Gene Analysis (1 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL188 Hereditary Fructose Intolerance (ALDOB) Gene Sequencing (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL189 Homocystinuria Gene Panel (5 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL190 Hyperargininemia (ARG1) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL191 Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel (94 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL192 Lysosomal Acid Lipase Deficiency (Lipa) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL193 Maple Syrup Urine Disease Gene Panel (5 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL194 Mcardle Disease (PYGM) Gene Analysis (1 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL195 Menkes Disease (Atp7A) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL196 Methylmalonic Aciduria Gene Panel (8 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL197 Mucopolysaccharidosis Gene Panel (29 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL198 Niemann-Pick Disease Gene Panel (3 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL199 Peroxisomal Disorder Gene Panel (Includes Adrenoleukodystrophy) (19 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL200 Phenylketonuria (PAH) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL201 Pompe Disease (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL202 Sialidosis Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL203 Urea Cycle Defect Gene Panel (9 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL204 Cardiomyopathy Gene Panel (115 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL205 Coronary Artery Disease (8 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL206 Cardiac Channelopathies (36 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL207 Connective Tissue Disorder Gene Panel (74 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL208 Cutis Laxa Gene Panel (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL209 Ehlers-Danlos Syndrome Gene Panel (15 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCl210 Acute Intermittent Porphyria( Hmbs) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCl211 Ectodermal Dysplasia Gene Panel (13 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCl212 Epidermolysis Bullosa (29 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCl213 Harlequin Ichthyosis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCl214 Oculocutaneous Albinism (8 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCl215 Xeroderma Pigmentosum (8 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL216 Alstrom Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL217 Androgen Receptor (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL218 Congenital Adrenal Hyperplasia (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL219 Congenital Hypo-Pitutiarism (10 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL220 Hereditary Pancreatitis Panel (5 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL221 Hypercholesterolemia (8 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL222 Kallmann Syndrome (10 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL223 Leptin Deficiency (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL224 Deafness (72 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL225 Mondini Dysplasia (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL226 Waardenburg Syndrome Gene Panel (30 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL227 Thalassemia (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL228 Aplastic Anemia Gene Panel (4 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL229 Bone Marrow Failure Syndrome Gene Panel (3 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL230 Congenital Afibrinogenemia (3 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL231 Congenital Amegacaryocytic Thrombocytopenia Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL232 Congenital Dyserythropoietic Anemia Gene Panel (5 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL233 Diamond Blackfan Anemia Gene Panel (38 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL234 Dyskerotosis Congenital Gene Panel (10 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL235 Factor Vii Deficiency(F7) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL236 Fanconi Anemia Gene Panel (68 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL237 G6Pd Gene Sequencing (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL238 Hemophilia( F8, F9) (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL239 Hemophilia A (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL240 Hemophilia B (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL241 Hemophagocytosis Lympho Histocytosis (5 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL242 Hereditary Elliptocytosis Gene Panel (3 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL243 Hereditary Hemolytic Anemia Panel (33 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL244 Hereditary Spherocytosis Gene Panel (4 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL245 Iron- Refractory Iron Deficiency Anemia Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL246 Methemoglobinemia Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL247 Mthfr Gene Analysis 2 Exons (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL248 Sideroblastic Anemia Gene Panel (4 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL249 Von-Willebrand Disease(Vwf) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL250 Wiskott Aldrich Syndrome (Was) Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL251 Alport Syndrom Gene Panel (3 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL252 Bartter Syndrome Gene Panel (5 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL253 Meckel Gruber Syndrome Gne Panel (3 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL254 Nephrotic Syndrome Gene Panel (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL255 Polycystic Kidney Disease Gene Panel (5 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL256 Primary Hyperoxaluria Gene Panel (3 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL257 Xanthinuria Gene Panel (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL258 Inherited Retinal Disease (201 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL259 Corneal Dystrophy (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL260 Cone Rod Dystrophy (30 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL261 Foveal Hypoplasia (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL262 Alegille Syndrome Gene Panel (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL263 Congenital Hepatic Fibrosis Gene Panel (5 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL264 Gilbert Or Crigler-Najjar Syndrome Gene Analysis For Point Mutation (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL265 Hemochromatosis Gene Panel (7 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL266 Polycysticliver Disease Gene Panel (4 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL267 Progressive Familial Intrahepatic Cholestasis Gene Panel (5 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL268 Tyrosinemia Gene Panel (3 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL269 Wilson Disease Gene Analysis (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL270 Marfan Syndrome (10 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL271 Noonam Syndrome (4 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL272 Huntington'S Disease (3 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL273 Job Syndrome (3 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL274 Usher Syndrome (5 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL275 Antley-Bixler Syndrome (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL276 Arts Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL277 Bardet-Biedl Syndrome (7 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL278 Bare Lymphocyte Syndrome (3 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL279 Bjornstad Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL280 Bloom Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL281 Budd-Chiari Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL282 Dubin-Johnson Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL283 Ehlers-Danlos Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL284 Ellis-Van Creveld Syndrome (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL285 Ellis-Van Creveld Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL286 Du Pan Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL287 Enhanced S-Cone Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL288 Carpenter Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL289 Cohen Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL290 Sjogren-Larsson Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL291 Persistent Mullerian Duct Syndrome (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL292 Occipital Horn Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL293 Gracile Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL294 Senior-Loken Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL295 Escobar Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL296 Omenn Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL297 Smith-Lemli-Optitz Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL298 Factor Xi Deficiency (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL299 Factor V Deficiency (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL300 Ladd Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL301 Hermansky-Pudlak Syndrome (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL302 Perrault Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL303 Nijmegen Breakage Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL304 Heimler Syndrome (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL305 Neu-Laxova Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL306 Gitelman Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL307 Pendred Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL308 Segawa Syndrome, Recessive (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL309 Werner Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL310 Schopf-Schulz-Passarge Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL311 Bernard-Soulier Syndrome (2 Genes) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA
RCL312 Chediak-Higashi Syndrome (1 Gene) NGS 4-5 Weeks Whole Blood/Purified genomic DNA 3-5 ml whole blood in EDTA vacutainer or 20-100 ng purified DNA