Karyotyping From Blood Test
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6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency Test Arginase Deficiency Test Argininosuccinic aciduria Test Autosomal recessive GTP cyclohydrolase I (arGTPCH) deficiency Test B Basal cell nevus syndrome (PTCH1) Test Basal cell nevus syndrome (SUFU) Test Carbinolamine-4a-dehydratase (PCD) deficiency Test Carbomoyal Phosphatase Synthase Deficiency (CPS) Test Central hypoventilation syndrome congenital (ASCL1) Test Central hypoventilation syndrome with or without Hirschsprung disease (PHOX2B) Test Citrullinemia Test Cystathionase deficiency (CBS) Test Dihydropteridine reductase (DHPR) deficiency Test FISH FOR X Y Test Fumarase Deficiency FH Test Granulomatous disease chronic autosomal recessive cytochrome b- positive type 1 (NCF1) Test GTP Cyclohydralase I deficiency Test G transaminase deficiency Test HHH(Hyperornithinemia- hyperammonemia-homocitrullinuria) syndrome Test Holocarboxylase deficiency Test Ketotic&Nonketitic Hyperglycinemia (NKH) Test Liver impaiment Test Maple Syrup Urine Disorder (MSUD) Test McKusick-Kaufman syndrome (MKKS) Test Mitochondrial myopathy and sideroblastic anemia type 1 (PUS1) Test N-acetyl glutamate synthase deficiency (NAGS) Test Neurofibromatosis type 1 (NF1) Test Neurofibromatosis type 1 -like syndrome (SPRED1) Test Neurofibromatosis type 2 (NF2) Test Neurotransmitter Disorders Test Nonketotic hyperglycinemia or NKH or glycine encephalopathy Test Ornithine Trans Carbomylase (OTC) deficiency Test Phenyl ketonuria (PKU) Test PRENATAL BETA THALASSEMIA Test PRENATAL SICKLE CELL DISEASE Test SMA SPINAL MUSCULAR ATROPHY EXON 7 8 OF SMN1 2 PRENATAL Test Transposition of the great arteries dextro-looped 1 (MED13L) Test Tylosis with esophageal cancer (RHBDF2) Test Tyrosinemia Test Tyrosinemia Type-1 (Tyr -I ) Test Urea cycle disorder (UCD) Test Warburg micro syndrome type 1 (RAB3GAP1) Test Wolman disease Test Zwelleger Test
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