• Karyotyping
• Spinal Muscular Atrophy
• Cystic Fibrosis
• ABCC8-related Hyperinsulinism
• Achromatopsia
• Alkaptonuria
• Alpha-1 Antitrypsin Deficiency
• Alpha-mannosidosis
• Alpha Thalassemia
• Andermann Syndrome
• ARSACS
• Aspartylglycosaminuria
• Ataxia With Vitamin E Deficiency
• Ataxia-telangiectasia
• Autosomal Recessive Polycystic Kidney Disease
• Bardet-Biedl Syndrome, BBS1-related：
• Bardet-Biedl Syndrome, BBS10-related：
• Biotinidase Deficiency
• Bloom Syndrome
• Canavan Disease
• Carnitine Palmitoyltransferase 1A Deficiency
• Carnitine Palmitoyltransferase II Deficiency
• Cartilage-hair Hypoplasia
• Citrullinemia Type 1
• CLN3-related Neuronal Ceroid Lipofuscinosis
• CLN5-related Neuronal Ceroid Lipofuscinosis
• Cohen Syndrome：
• 21-hydroxylase Deficient Congenital Adrenal Hyperplasia
• Congenital Disorder Of Glycosylation Type 1a
• Congenital Disorder Of Glycosylation Type 1b
• Congenital Finnish Nephrosis
• Costeff Optic Atrophy Syndrome
• Cystinosis
• D-bifunctional Protein Deficiency
• Dihydrolipoamide Dehydrogenase Deficiency
• Dihydropyrimidne Dehyrdogenase Deficiency
• Factor XI Deficiency
• Familial Dysautonomia
• Familial Mediterranean Fever
• Fanconi Anemia Type C
• Galactosemia
• Gaucher Disease
• GJB2-related DFNB1 Nonsyndromic Hearing Loss And Deafness
• Glutaric Acidemia Type 1
• Glycogen Storage Disease Type Ia
• Glycogen Storage Disease Type Ib
• Glycogen Storage Disease Type III
• Glycogen Storage Disease Type V
• GRACILE Syndrome
• Hb Beta Chain-related Hemoglobinopathy (including Beta Thalassemia And Sickle Cell Disease)
• Hereditary Fructose Intolerance
• Hereditary Thymine-uraciluria
• Herlitz Junctional Epidermolysis Bullosa, LAMA3-related
• Herlitz Junctional Epidermolysis Bullosa, LAMB3-related
• Herlitz Junctional Epidermolysis Bullosa, LAMC2-related
• Hexosaminidase A Deficiency (including Tay-Sachs Disease)
• Homocystinuria Caused By Cystathionine Beta-synthase Deficiency
• Hurler Syndrome
• Hypophosphatasia, Autosomal Recessive
• Inclusion Body Myopathy 2
• Isovaleric Acidemia
• Joubert Syndrome 2
• Krabbe Disease
• Limb-girdle Muscular Dystrophy Type 2D
• Limb-girdle Muscular Dystrophy Type 2E
• Lipoamide Dehydrogenase Deficiency
• Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
• Maple Syrup Urine Disease Type 1B
• Medium Chain Acyl-CoA Dehydrogenase Deficiency
• Megalencephalic Leukoencephalopathy With Subcortical Cysts
• Metachromatic Leukodystrophy
• Mucolipidosis IV
• Mucopolysaccharidosis Type I
• Muscle-eye-brain Disease
• NEB-related Nemaline Myopathy
• Niemann-Pick Disease Type C
• Niemann-Pick Disease, SMPD1-associated
• Nijmegen Breakage Syndrome
• Northern Epilepsy
• Pendred Syndrome
• PEX1-related Zellweger Syndrome Spectrum
• Phenylalanine Hydroxylase Deficiency
• Polyglandular Autoimmune Syndrome Type 1
• Pompe Disease
• PPT1-related Neuronal Ceroid Lipofuscinosis
• Primary Carnitine Deficiency
• Primary Hyperoxaluria Type 1
• Primary Hyperoxaluria Type 2
• PROP1-related Combined Pituitary Hormone Deficiency
• Pseudocholinesterase Deficiency
• Pycnodysostosis
• Rhizomelic Chondrodysplasia Punctata Type 1
• Salla Disease
• Segawa Syndrome
• Short Chain Acyl-CoA Dehydrogenase Deficiency
• Sjogren-Larsson Syndrome
• Smith-Lemli-Opitz Syndrome
• Steroid-resistant Nephrotic Syndrome
• Sulfate Transporter-related Osteochondrodysplasia
• TPP1-related Neuronal Ceroid Lipofuscinosis
• Tyrosinemia Type 1
• Usher Syndrome Type 1F
• Usher Syndrome Type 3
• Very Long Chain Acyl-CoA Dehydrogenase Deficiency
• Walker-Warburg Syndrome
• Wilson Disease

<実際に行われた検査結果のサンプル>