Pointed Mutational Analysis (any gene from this list)
46,XX True Hermaphroditism, SRY-positive (Gonadal Dysgenesis)
- Achondroplasia
- Acute Promyelocytic Leukemia
- ACYL-COA Dehydrogenase Medium-Chain, Deficiency of
- ACYL-COA Dehydrogenase Medium-Chain, Deficiency of
- Adiponectin (Hipoadiponectinemia)
- Adrenal hyperplasia congenital (due to 21-hydroxylase deficiency)
- Adrenal hyperplasia congenital (due to 21-hydroxylase deficiency)
- Adrenal hyperplasia congenital (due to 21-hydroxylase deficiency)
- Adrenal hyperplasia congenital (due to 21-hydroxylase deficiency)
- Adrenal hyperplasia congenital (due to 21-hydroxylase deficiency)
- Adrenoleukodystrophy (X-linked)
- Adrenoleukodystrophy (X-linked)
- Afibrinogenemia, congenital
- Afibrinogenemia, congenital
- Afibrinogenemia, congenital
- Albinism oculocutaneous Type IA (OCA1A)
- Albinism oculocutaneous Type II (OCA2)
- Alpha-1-Antitrypsin Deficiency (AAT)
- Alpha-Thalassaemia
- Alpha-Thalassaemia
- Alport Syndrome (Autosomal Dominant)
- Alport Syndrome (Autosomal Recessive)
- Alport Syndrome (Autosomal Recessive)
- Alport Syndrome (X-linked, ATS)
- Alport Syndrome (X-linked, ATS)
- Alzheimer Disease Familial Type 1 (AD1)
- Alzheimer Disease Familial Type 1 (AD1)
- Alzheimer Disease Familial Type 3 (AD3)
- Alzheimer Disease Familial Type 4 (AD4)
- Alzheimer Disease Type 2 (AD2), Late Onset
- Amyloidosis hereditary, transthyretin-related
- Angelman Syndrome
- Angelman Syndrome
- Angelman Syndrome
- Angelman Syndrome
- Angioedema hereditary types I and II ( hane C1 esterase inhibitor, deficiency of).
- Angiotensin Converting Enzyme (ACE)
- Ankylosing Spondylitis
- Apert Syndrome
- Apert Syndrome
- Apolipoprotein A-V (APOA5)
- Arrhythmogenic Right Ventricular Dysplasia Type 10 (ARVD10)
- Arrhythmogenic Right Ventricular Dysplasia Type 8 (ARVD8)
- Arrhythmogenic Right Ventricular Dysplasia Type 9 (ARVD9)
- Ataxia-telangiectasia (Louis-Bar, Syndrome)
- Ataxia-telangiectasia (Louis-Bar, Syndrome)
B
- Beta-Thalassaemia
- Beta-Thalassaemia
- Beta-Thalassaemia
- BRAF
- BRAF, Mutation
- Breast-ovarian cancer familial (BRCA1 and BRCA2)
- Breast-ovarian cancer familial (BRCA1 and BRCA2)
- Breast-ovarian cancer familial (BRCA1)
- Breast-ovarian cancer familial (BRCA1)
- Breast-ovarian cancer familial (BRCA2)
- Breast-ovarian cancer familial (BRCA2)
- Breast-ovarian cancer, familial (BRCA1)
- Brugada Syndrome
C
- CADASIL (Cerebral arteriopathy, Autosomal Dominant)
- CADASIL (Cerebral arteriopathy, Autosomal Dominant)
- CADASIL (Cerebral arteriopathy, Autosomal Dominant)
- CADASIL (Cerebral arteriopathy, Autosomal Dominant)
- Campomelic Dysplasia
- Canavan Disease
- Cardiomyopathy Dilated (CMD1A)
- Cardiomyopathy Dilated (CMD1D)
- Cardiomyopathy Dilated (CMD1S)
- Cardiomyopathy Hypertrophic familial (CMH1)
- Cardiomyopathy Hypertrophic familial (CMH2)
- Cardiomyopathy Hypertrophic familial (CMH4)
- Celiac disease
- Central Core Disease Myopathy
- Central Core Disease Myopathy
- Cerebral Cavernous Malformations
- Cerebral Cavernous Malformations 1 (CCM1)
- Cerebral Cavernous Malformations 2 (CCM2)
- Cerebral Cavernous Malformations 3 (CCM3)
- Charcot-Marie-Tooth 1A (CMT1A)
- Charcot-Marie-Tooth 1B (CMT1B)
- Charcot-Marie-Tooth 1E (CMT1E)
- Charcot-Marie-Tooth 2A2 (CMT2A2)
- Charcot-Marie-Tooth 2B (CMT2B)
- Charcot-Marie-Tooth 2B (CMT2B)
- Charge syndrome
- Chondrodysplasia Punctata, X-linked dominant (Conradi-Hunermann syndrome)
- Cleidocranial Dysplasia
- Cleidocranial Dysplasia
- Colorectal Adenomatus Polyptosis, Autosomal Recessive
- Colorectal Adenomatus Polyptosis, Autosomal Recessive
- Congenital bilateral absence of vas deferens (CBAVD)
- Cowden disease
- Cowden disease
- Cowden disease
- Craniofrontonasal Dysplasia
- Craniosynostosis FGFR2 related
- Craniosynostosis FGFR3 related
- Craniosynostosis non syndromic
- Crohn disease, susceptibility to
- Crohn disease, susceptibility to
- Crouzon syndrome
- Crouzon syndrome
- Crouzon syndrome with acanthosis nigricans
- Currarino Syndrome (Sacral Agenesis Hereditary)
- Cystic Fibrosis
- Cystic Fibrosis
- Deafness Type 3 (Autosomal Recessive)
- Deafness Type 4 (Autosomal Recessive)
- Deafness, Aminoglycoside Induced
- Dentatorubro-pallidoluysian Atrophy (Naito-Oyanagi disease) (DRPLA)
- Diabetes Mellitus Neonatal
D
- Diamond-Blackfan Anemia (DBA1)
- Diamond-Blackfan Anemia (DBA1)
- Diamond-Blackfan Anemia (DBA10)
- Diamond-Blackfan Anemia (DBA3)
- Diamond-Blackfan Anemia (DBA4)
- Diamond-Blackfan Anemia (DBA5)
- Diamond-Blackfan Anemia (DBA6)
- Diamond-Blackfan Anemia (DBA7)
- Diamond-Blackfan Anemia (DBA8)
- Diamond-Blackfan Anemia (DBA9)
- DiGeorge syndrome, included CATCH22
- Duchenne/Becker Muscular Dystrophy
- Duchenne/Becker Muscular Dystrophy
- Dysfibrinogenemia
E
- Early-onset Torsion Dystonia (DYT1) (Autosomal dominant)
- Ehlers-Danlos Syndrome, Type I
- Ehlers-Danlos Syndrome, Type I
- Ehlers-Danlos Syndrome, Type III
- Ehlers-Danlos Syndrome, Type III
- Ehlers-Danlos Syndrome, Type IV
- Ehlers-Danlos Syndrome, Type VI
- Ehlers-Danlos Syndrome, Type VII
- Ehlers-Danlos Syndrome, Type VII
- Ehlers-Danlos Syndrome, Type VII
- Emery-Dreifuss Muscular Dystrophy (Autosomal Dominant) (AD-EDMD)
- Emery-Dreifuss Muscular Dystrophy, X-linked (XL-EDMD)
- Epidermolysis Bullosa Dystrophica (Autosomal Dominant)
- Epidermolysis Bullosa Dystrophica (Autosomal Dominant)
- Epidermolysis Bullosa Dystrophica (Autosomal Recessive)
- Epidermolysis Bullosa Simplex, Weber-Cockayne Type (EBS-WC), Koebner Type (EBS-K) and Dowling-Meara (EBS-DM)
- Epidermolysis Bullosa Simplex, Weber-Cockayne Type (EBS-WC), Koebner Type (EBS-K) and Dowling-Meara (EBS-DM)
- Epidermolysis Bullosa Simplex, Weber-Cockayne Type (EBS-WC), Koebner Type (EBS-K) and Dowling-Meara (EBS-DM)
- Epilepsy Pyridoxine-Dependent (AASA Dehydrogenase deficiency)
- F
- Fabry Disease (Galactosidase defiency)
- Fabry Disease (Galactosidase defiency)
- Faciogenital Dysplasia (Aarskog-Scott syndrome)
- Facioscapulohumeral Muscular Dystrophy
- Facioscapulohumeral Muscular Dystrophy
- Facioscapulohumeral Muscular Dystrophy
- Factor V Leiden Thrombophilia
- Factor XII Deficiency
- Factor XII Deficiency
- Familial Adenomatous Polyposis (APC)
- Familial Adenomatous Polyposis (APC)
- Familial Adenomatous Polyposis (APC)
- Familial Adenomatous Polyposis (APC)
- Familial Mediterranean Fever (MEFV)
- Familial Mediterranean Fever (MEFV)
- Fatty Liver Disease Nonalcoholic, susceptibility to
- Fetal gender prediction on peripheral maternal blood
- Fragile X Syndrome (FRAXA)
- Friedrich´s Ataxia
- Frontonasal Dysplasia
- Fuhrmann Syndrome
G
- Gastric Cancer Hereditary Diffuse
- Gaucher Disease (Types 1, 2 and 3)
- Gaucher Disease (Types 1, 2 and 3)
- Gilbert Syndrome
- Gilbert Syndrome
- Gilles de la Tourette Syndrome
- Glaucoma 1 Open Angle (POAG)
- Glaucoma Primary Congenital
- Glucocorticoid-Supressible Hyperaldosteronism
- Glucosa 6-fosfato deshidrogenasa, Deficiency
- GLUT1, Deficiency Syndrome
- Glutaric Acidemia Type I
- Glycogen Storage disease V (McArdle disease)
- Glycogen Storage disease V (McArdle disease)
- Gorlin Syndrome
- Grelina (Ghrelin, Obestatin) (Metabolic Syndrome,susceptibility to)
- Grelina (Ghrelin, Obestatin) (Obesity, susceptibility to)
- Grelina (Ghrelin, Obestatin) (Obesity/Metabolic Syndrome, susceptibility to)
H
- Hemochromatosis
- Hemochromatosis juvenile (Type 2A)
- Hemophilia A
- Hemophilia A
- Hemophilia B
- Hepatitis C virus infection, response to therapy of
- Heterotaxy Visceral 1, X-linked (Congenital heart defects, nonsyndromic)
- HIV infection, Resistance to
- HLA-DQ, Genotyping
- HLA-DR, Genotyping
- Human Papiloma Virus (HPV)
- Huntington Disease
- Hypercholesterolemia (Apo B)
- Hypercholesterolemia (Apo B)
- Hypercholesterolemia (Apo B)
- Hypercholesterolemia Familial (Apo B)
- Hyperreninemic Hypoaldosteronism, Familial (Corticosterone Methyloxidase Type I)
- Hypertension Early-onset, Autosomal Dominant
- Hypocalciuric Hypercalcemia Familiar Type I
- Hypochondroplasia
- Hypochondroplasia
I
- Ichthyosis Lamellar 1 (LI1)
- Ichthyosis Lamellar 2 (LI2)
- Incontinentia Pigmenti
- Incontinentia Pigmenti
J
- Jackson-Weiss Syndrome
K
- Kallmann Syndrome – Type 1 (X-Linked)
- Kallmann Syndrome – Type 2
- Kallmann Syndrome – Type 3
- Kallmann Syndrome – Type 4
- Kearns-Sayre Syndrome (KSS)
- Kenny-Caffey Syndrome (KCS1)
- Keratosis Follicularis Spinulosa Decalvans
- KIR Genotyping (Repetitive Abortions)
- KRAS, Mutations
- KRAS, Mutations
L
- Lactose Intolerance (LCT)
- Leber congenital amaurosis (LCA 6)
- Leber congenital amaurosis 14 (LCA 14)
- Leber congenital amaurosis 2 (LCA 2)
- Leber Hereditary Optic Neuropathy (LHON) (Leber Optic Atrophy)
- Leber Hereditary Optic Neuropathy (LHON) (Leber Optic Atrophy)
- Leri-Weill, Dyschondrosteosis
- Leri-Weill, Dyschondrosteosis
- Leucemia Mieloide Crónica
- Leukemia Acute Promyelocytic, PML/RARA type
- Leukemia Chronic Myeloid
- Leukocyte adhesion deficiency (LAD)
- Leukoencephalopathy with vanishing white matter
- Leukoencephalopathy with vanishing white matter
- Leukoencephalopathy with vanishing white matter
- Leukoencephalopathy with vanishing white matter
- Leukoencephalopathy with vanishing white matter
- Li-Fraumeni, Syndrome
- Liddle Syndrome
- Liddle Syndrome
- Lipoprotein Llipase Deficiency (Hyperlipoproteinemia, Hyperlipemia Essential Familial)
- Lipoprotein Llipase Deficiency (Hyperlipoproteinemia, Hyperlipemia Essential Familial)
- Lipoprotein Llipase Deficiency (Hyperlipoproteinemia, Hyperlipemia Essential Familial)
- Lipoprotein Llipase Deficiency (Hyperlipoproteinemia, Hyperlipemia Essential Familial)
- Long QT Syndrome (LQT1)
- Long QT Syndrome (LQT2)
- Long QT Syndrome (LQT3)
- Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)
- Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)
- Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)
- Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)
- Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)
- Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)
- Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)
- Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)
M
- Machado-Joseph Disease (MJD) (SCA3)
- Malignant Hyperthermia, Susceptibility to
- Marfan Syndrome
- Marfan Syndrome
- Marfan Type 2A Syndrome (Loeys-Dietz, Syndrome) (LDS2A)
- Marfan Type 2B Syndrome (Loeys-Dietz, Syndrome) (LDS2B)
- Marinesco-Sjögren Syndrome
- Mastocytosis
- Mastocytosis
- Mastocytosis cutaneous diffuse
- Mastocytosys with associated hematologic disorder
- Maternal Cell Contamination, on prenatal samples
- McArdle Disease (Glycogen Storage Disease V, Myophosphorylase Deficiency)
- McArdle Disease (Glycogen Storage Disease V, Myophosphorylase Deficiency)
- Medullary thyroid carcinoma (FMTC)
- Medullary thyroid carcinoma (FMTC)
- Melanoma Hereditary
- MELAS Syndrome (Encephalopaty mitochondrial)
- MEN 1 – Multiple Endocrine Neoplasia Type I
- MEN 1 – Multiple Endocrine Neoplasia Type I
- MEN 2A – Multiple Endocrine Neoplasia Type 2A (Sipple Syndrome)
- MEN 2A – Multiple Endocrine Neoplasia Type 2A (Sipple Syndrome)
- MEN 2A – Multiple Endocrine Neoplasia Type 2A (Sipple Syndrome)
- MEN 2B -Multiple Endocrine Neoplasia Type IIB
- MEN 2B -Multiple Endocrine Neoplasia Type IIB
- Menkes Disease
- Menkes Disease
- Methemoglobinemia
- Microdeletions and chromosome (Spermatogenic Failure non-obstructive, Azoospermia)
- MODY 2
- MODY 3
- MTHFR Methylenetetrahydrofolate reductase (Homocystinuria)
- MTHFR Methylenetetrahydrofolate reductase (Homocystinuria)
- Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)
- Mucopolysacharidosis Type IV A (Morquio Syndrome A, Galactosamine-6-Sulfatase Deficiency)
- Mucopolysacharidosis Type IV B (Morquio Syndrome B)
- Muenke Syndrome
- Multiminicore Disease (MmD)
- Multiminicore Disease (MmD)
- Multiminicore Disease (MmD)
- Multiminicore Disease (MmD)
- Multiminicore Disease (MmD)
- Multiminicore Disease (MmD)
- Myelofibrosis
- Myeloproliferative disorder with erythrocytosis JAK2 related (Polycythemia Vera, Thrombocythemia Essential and Myelofibrosis)
- Myopathy Centronuclear
- Myotonia Congenita Dominant (Thomsen Disease; Becker Disease)
- Myotonic Dystrophy Type 1 (DM1) (Steinert disease)
N
- Neuroblastoma, Susceptibility to (NBLST1)
- Neuroblastoma, Susceptibility to (NBLST2)
- Neuroblastoma, Susceptibility to (NBLST3)
- Neurofibromatosis Type II (NF2)
- Neurofibromatosis Type II (NF2)
- Neurofribromatosis Type I (NF1)
- Neurofribromatosis Type I (NF1)
- Neuropathy Hereditary With Liability to Pressure Palsies (HNPP)
- Neuropathy Hereditary With Liability to Pressure Palsies (HNPP)
- Neurosensory Nonsyndromic Recessive Deafness
- Neurosensory Nonsyndromic Recessive Deafness
- Neurosensory Nonsyndromic Recessive Deafness
- Neurosensory Nonsyndromic Recessive Deafness
- Neutropenia Severe Congenital
- Niemann-Pick Disease (Types A and B)
- Non Small Cell Lung Cancer (NSCLC)
- Noonan Syndrome
O
- Obesity Morbid
- Oculopharyngeal Muscular Dystrophy
- Optic Atrophy Dominant Type 1 (ADOA)
- Optic Atrophy Dominant Type 1 (ADOA)
- Optic Atrophy Dominant Type 1 (ADOA)
- Optic Atrophy Type 3 with cataract
- Optic Atrophy Type 3 with cataract
- Ornithine transcarbamylase deficiency
- Ornithine transcarbamylase deficiency
- Osteogenesis Imperfecta
- Osteogenesis Imperfecta
- Osteogenesis Imperfecta
P
- Pancreatitis Hereditary
- Pancreatitis Hereditary
- Pancreatitis Hereditary
- Pancreatitis Hereditary
- Pancreatitis Hereditary
- Parkinson Disease 8 (Autosomal Dominant)
- Parkinson Disease 8 (Autosomal Dominant)
- Parkinson Juvenile Disease
- Parkinson Juvenile Disease
- Peutz-Jeghers Syndrome
- Pfeiffer Syndrome
- Pfeiffer Syndrome
- Pfeiffer Syndrome
- Pfeiffer Syndrome
- Phenylketonuria (PAH)
- Phenylketonuria (PAH)
- Pheochromocytoma and/or Paragaglioma
- Pheochromocytoma and/or Paragaglioma
- Pheochromocytoma and/or Paragaglioma
- Plasminogen Activator Inhibitor 1 Deficiency
- Polycystic Kidney Autosomal Recessive (ARPKD)
- Polycystic Kidney Syndrome, Autosomal Dominant
- Polycystic Kidney Syndrome, Autosomal Dominant
- Polycythemia Vera
- Porphyria Variegata
- Prader Willi Syndrome
- Prader Willi Syndrome
- Prader Willi Syndrome
- Prothrombin Thrombophilia (Factor II)
- Pseudoarylsulfatase A Deficiency (Metachromatic leukodystrophy )
- Pseudohypoaldosteronism Type I, Autosomal Dominant
- Pulmonary Hypertension Primary (PPH1)
- Pulmonary Hypertension Primary (PPH1)
- R
- Retinitis Pigmentosa Autosomal Dominant
- Retinitis Pigmentosa Autosomal Recessive
- Retinitis Pigmentosa Autosomal Recessive
- Retinitis Pigmentosa Autosomal Recessive
- Retinitis Pigmentosa Autosomal Recessive
- Retinitis Pigmentosa X-linked
- Retinitis Pigmentosa X-linked
- Retinitis Pigmentosa X-linked
- Retinoblastoma
- Retinoblastoma
- Retinoschisis 1 Juvenile, X-Linked
- Rett Syndrome
- Rett Syndrome
- Rubinstein-Taybi Syndrome
- Rubinstein-Taybi Syndrome
S
- Sanjad-Sakati Syndrome (HRD)
- “Serotonin Transporter SERT (Obsessive-compulsive disorder)”
- Severe Myoclonic epilepsy of infancy (Dravet Syndrome) (SMEI)
- Severe Myoclonic epilepsy of infancy (Dravet Syndrome) (SMEI)
- Short Stature, idiopathic
- Short Stature, idiopathic
- Sickle cell anemia
- Sickle cell anemia
- Smith-Lemli-Opitz Syndrome (SLOS)
- Smith-Lemli-Opitz Syndrome (SLOS)
- Spastic Paraplegia (Pelizaeus-Merzbacher Disease)
- Spastic Paraplegia (Pelizaeus-Merzbacher Disease)
- Spastic Paraplegia Familiar (Autosomal Dominant)
- Spastic Paraplegia Familiar (Autosomal Dominant)
- Spherocytosis Type 1 (SPH1)
- Spherocytosis Type 2 (SPH2)
- Spherocytosis Type 3 (SPH3)
- Spherocytosis Type 4 (SPH4)
- Spherocytosis Type 5 (SPH5)
- Spinal and Bulbar Muscular Atrophy of Kennedy (SBMA)
- Spinal Muscular Atrophy (SMA-LED) (Kugelberg-Welander Syndrome)
- Spinal Muscular Atrophy (SMA)
- Spinal Muscular Atrophy (SMA)
- Spinocerebellar Ataxia 12, SCA12
- Spinocerebellar Ataxia Dominant SCA1
- Spinocerebellar Ataxia Dominant SCA17
- Spinocerebellar Ataxia Dominant SCA2
- Spinocerebellar Ataxia Dominant SCA3 (Machado-Joseph Disease)
- Spinocerebellar Ataxia Dominant SCA5
- Spinocerebellar Ataxia Dominant SCA6
- Spinocerebellar Ataxia Dominant SCA7
- Spinocerebellar Ataxia Dominant SCA8
- Squamous Cell Carcinoma, Head and Neck
- Squamous Cell Carcinoma, Head and Neck
- Stickler Syndrome Type 1
- Stickler Syndrome Type 1 (Arthroophthalmopathy)
- Stickler Syndrome Type 2
- Supravalvar Aortic Stenosis (SVAS)
- Supravalvular Aortica Stenosis (SVAS)
T
- Tay-Sachs Disease
- Telangiectasia Hereditary Hemorragic (Osler-Weber-Rendu Disease) (HHT)
- Telangiectasia Hereditary Hemorragic (Osler-Weber-Rendu Disease) (HHT)
- Telangiectasia Hereditary Hemorragic (Osler-Weber-Rendu Disease) (HHT1)
- Telangiectasia Hereditary Hemorragic (Osler-Weber-Rendu Disease) (HHT2)
- Telangiectasia Hereditary Hemorragic (Osler-Weber-Rendu Disease) (JPHT, HHT, Juvenile polyposis)
- Thanatophoric Dysplasia Type I
- Thanatophoric Dysplasia Type I and Type II
- Thanatophoric Dysplasia Type II
- Thrombocythemia Essential
- Thyroid Hormone Resistance
- Treacher Collins Syndrome
- Trichorhinophalangeal Syndrome
- Trimethylaminuria
- Tuberous Sclerosis
- Tuberous Sclerosis
- Tuberous Sclerosis
- Tuberous Sclerosis
- Tuberous Sclerosis
V
- Vitelliform Macular Distrophy (Best disease)
- Von Hippel Lindau Disease
- Von Hippel Lindau Disease
- Von Willebrand Disease Type 1 (VWD1)
- Von Willebrand Disease Type 1 (VWD1)
- Von Willebrand Disease Type 2A (VWD2)
- Von Willebrand Disease Type 2A (VWD2)
- Von Willebrand Disease Type 2N (VWDN)
- Von Willebrand Disease Type 3 (VWD3)
W
- Waardenburg Syndrome (Type 2E)
- Waardenburg Syndrome (Type 4C)
- Williams Syndrome (Williams-Beuren Syndrome)
- Williams Syndrome (Williams-Beuren Syndrome)
- Wilson Disease
- Wilson Disease
- Wiskott-Aldrich Syndrome
X
- Xeroderma Pigmentosum Complementation Group C (XPC)
- Xeroderma Pigmentosum Complementation Group D (XPD)
- Xeroderma Pigmentosum Variant Type (XPV)