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Crigler Najjar syndrome- type 2 Usher syndrome- type 3 Severe combined immunodeficiency- X-linked Nijmegen Breakage Syndrome Holocarboxylase synthetase deficiency Short chain Acyl CoA dehydrogenase deficiency Myotubular myopathy Zellweger syndrome Cystic fibrosis Bloom syndrome Bare lymphocyte syndrome isovaleric acidemia Achromatopsia Dystrophic epidermolysis bullosa Niemann-Pick Disease Type C Choroideremia Factor V deficiency Factor 2 deficiency Factor V Leiden thrombophilia Tyrosinemia type 1 Ataxia with vitamin E deficiency Ataxia-Telangiectasia Congenital disorder of glycosylation type 1B Congenital disorder of glycosylation type 1A Androgen insensitivity syndrome Glycogen storage disease type 3 Glycogen storage disease type 2B Beta-thalassemia Glycogen storage disease type 1B Familial Mediterranean fever Maple syrup urine disease Glucose 6 phosphate dehydrogenase deficiency Emery-Dreifuss muscular dystrophy- X-linked Smith Lemli Opitz syndrome- type 1 Smith-Lemli-Opitz syndrome- type 2 Muscle eye brain disease Sjögren-Larsson syndrome Dihydropyrimidine dehydrogenase deficiency Metachromatic leukodystrophy Corneal dystrophy and perceptive deafness Canavan disease Von Willebrand disease Abetalipoproteinemia X-linked Juvenile Retinoschisis Charcot-Marie-Tooth disease and deafness Fanconi Anemia Hereditary fructose intolerance Leigh syndrome Galactosemia Gangliosidosis generalized GM1- type 1 Gangliosidosis- generalized GM1 type 2 Gangliosidosis GM1 type 3 Alkaptonuria Epidermolysis bullosa- junctional Cartilage-hair hypoplasia Progressive Familial Intrahepatic Cholestasis 2 Niemann-Pick Disease Beta ketothiolase deficiency Inclusion body myopathy- 2 autosomal recessive Crigler Najjar syndrome type 1 Nonsyndromic hereditary sensorineural hearing loss Alport syndrome Pycnodysostosis Congenital disorder of glycosylation type 1C Pendred syndrome Fragile X syndrome Salla disease Lipoid congenital adrenal hyperplasia Limb-girdle muscular dystrophy- type 2D Limb-girdle muscular dystrophy- type 2E Primary hyperoxaluria type 2 Primary Hyperoxaluria Type 1 Factor XI deficiency- congenital Leber congenital amaurosis Dubin-Johnson syndrome Familial Lipoprotein Lipase Deficiency Glycogen storage disease type 7 Glycogen storage disease type 4 Glycogen storage disease type 5 Autosomal recessive polycystic kidney disease Tay Sachs disease Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase I deficiency Aromatase deficiency Hermansky-Pudlak syndrome Gitelman syndrome Hunter Syndrome Mucolipidosis type 4 Sickle cell anemia Congenital amegakaryocytic thrombocytopenia Greenberg dysplasia Pseudoneonatal adrenoleukodystrophy Wilson disease Spinal muscular atrophy Adenosine monophosphate deaminase deficiency Bardet-Biedl syndrome 10 Bardet-Biedl syndrome 1 Alpha-Thalassemia Alpha-1 antitrypsin deficiency

Recombine is a clinical genetic testing company. Our goal is to help you make informed medical decisions based on clear and actionable genetic testing results. Our company was started by experts in the fields of fertility, clinical genetics, bioinformatics and computer science brought together with one goal in mind: to improve health outcomes with responsible use of genetic testing.