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Medical Specialties for which GeneDx offers tests

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Cardiac Disorders

• Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
• Brugada Syndrome (BrS)
• Cardio-Facio-Cutaneous Syndrome
• Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
• CHARGE Syndrome
• Congenital Heart Disorder due to Micro Del/Dup Syndrome
• DiGeorge syndrome
• Dilated Cardiomyopathy (DCM)
• Heterotaxy
• Holt-Oram syndrome
• Hypertrophic Cardiomyopathy (HCM)
• Left Ventricular Noncompaction (LVNC)
• LEOPARD Syndrome
• Loeys-Dietz syndrome (LDS)
• Long QT Syndrome (LQTS)
• Marfan Syndrome/LDS/Related Disorders
• Noonan Syndrome
• Oculo Facio Cardio Dental Syndrome
• Short QT Syndrome (SQTS)
• Simpson-Golabi-Behmel Syndrome (SGBS)
• Sotos Syndrome
• Sudden Cardiac Arrest
• Sudden Unexplained Death
• Supravalvular Aortic Stenosis
• Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders
• Transthyretin Amyloidosis
• Velocardiofacial syndrome
• Williams-Beuren syndrome
• Wolff-Parkinson-White Syndrome

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Disorders of Sex Differentiation

• 17 Alpha-Hydroxylase/17,20-Lyase Deficiency
• 46,XY Disorder of Sex Development
• 46,XY Gonadal Dysgenesis (SRY-related)
• 46,XY Gonadal Dysgenesis With or Without Adrenal Insufficiency (NR5A1-related)
• 46,XY Gonadal Dysgenesis With or Without Polyneuropathy (DHH-related)
• 5-Alpha Reductase Deficiency
• Adrenal Hypoplasia Congenita (AHC), X-linked
• Androgen Insensitivity Syndrome (AIS)
• Antley-Bixler Syndrome (ABS)
• Aromatase Deficiency
• Campomelic Dysplasia (CD)
• Cytochrome P450 Oxidoreductase (POR) Deficiency
• Smith-Lemli-Opitz Syndrome
• Testicular Feminization Syndrome (TFM)

Dysmorphology Disorders

• Alagille syndrome
• Antley-Bixler Syndrome (ABS)
• Axenfeld-Rieger Syndrome
• Bannayan-Riley-Ruvalcaba Syndrome
• Branchiootic Syndrome
• Branchiootorenal syndrome
• Campomelic Dysplasia (CD)
• Cardio-Facio-Cutaneous Syndrome
• CHARGE Syndrome
• Cherubism
• Chondrodysplasia Punctata (CDPX1), X-Linked Recessive
• Clefting Syndrome
• Coffin-Lowry Syndrome (CLS)
• Cohen Syndrome
• Costello Syndrome
• Cowden Syndrome
• Craniofrontonasal syndrome
• Cutis Laxa, Autosomal Dominant
• Cytochrome P450 Oxidoreductase (POR) Deficiency
• DiGeorge syndrome
• Ectodermal Dysplasia
• Ectrodactyly
• Feingold Syndrome
• Greig Cephalopolysyndactyly Syndrome
• Hay-Wells Syndrome
• Holoprosencephaly
• HOXD13-Associated Limb Abnormalities
• Hypo-/Anhidrotic Ectodermal Dysplasia
• Kabuki syndrome (KS)
• Kallmann Syndrome
• LEOPARD Syndrome
• Metachondromatosis
• Microphthalmia, Lenz Syndrome
• Noonan Syndrome
• Noonan-Like Syndrome
• Oculo Facio Cardio Dental Syndrome
• Oral-Facial-Digital syndrome Type 1
• Pallister Hall syndrome (PHS)
• Popliteal Pterygium Syndrome
• Prader-Willi syndrome (PWS)
• Proteus Syndrome/Proteus-like Syndrome
• PTEN associated Macrocephaly/Autism Syndrome
• Rieger Syndrome
• Rubinstein-Taybi Syndrome (RSTS)
• Simpson-Golabi-Behmel Syndrome (SGBS)
• Smith-Magenis Syndrome (SMS)
• Sotos Syndrome
• Split Hand - Split Foot Malformation
• Supravalvular Aortic Stenosis
• Treacher Collins Syndrome (TCS)
• Triphalangeal Thumb Polydatcyly
• Van der Woude Syndrome
• Velocardiofacial syndrome
• Williams-Beuren syndrome

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Endocrine Disorders

• 17 Alpha-Hydroxylase/17,20-Lyase Deficiency
• 46,XY Disorder of Sex Development
• 46,XY Gonadal Dysgenesis (SRY-related)
• 46,XY Gonadal Dysgenesis With or Without Adrenal Insufficiency (NR5A1-related)
• 46,XY Gonadal Dysgenesis With or Without Polyneuropathy (DHH-related)
• 5-Alpha Reductase Deficiency
• Achalasia-Addisonianism-Alacrima
• Adrenal Hypoplasia Congenita (AHC), X-linked
• Allgrove Syndrome
• Androgen Insensitivity Syndrome (AIS)
• Antley-Bixler Syndrome (ABS)
• APECED
• Aromatase Deficiency
• Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy
• Autoimmune Polyglandular Syndrome
• Carney Complex
• Cytochrome P450 Oxidoreductase (POR) Deficiency
• DFNB4 Nonsyndromic Hearing Loss and Deafness
• Familial Hypocalciuric Hypercalcemia (FHH)
• Familial Isolated Hyperparathyroidism (FIHP)
• Familial Isolated Hypoparathyroidism (FIH)
• Familial Medullary Thyroid Cancer
• Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL/PCC)
• Hyperparathyroidism-Jaw Tumor Syndrome
• Hypocalcemia, Autosomal Dominant (ADH)
• Maturity-Onset Diabetes of the Young (MODY)
• Multiple Endocrine Neoplasia 2A
• Multiple Endocrine Neoplasia 2B
• Multiple Endocrine Neoplasia Type 1
• Neonatal Severe Primary Hyperparathyroidism (NSHPT)
• Parathyroid Carcinoma
• Pendred Syndrome
• Permanent Neonatal Diabetes (PND)
• Prader-Willi syndrome (PWS)
• Premature Ovarian Failure (POF)
• Septo-Optic Dysplasia
• Shwachman-Diamond Syndrome (SDS)
• Testicular Feminization Syndrome (TFM)
• Triple-A Syndrome
• Wermer syndrome

Eye Disorders

• Achromatopsia
• Aniridia
• Anophthalmia
• Anterior Segment Dysgenesis
• Axenfeld-Rieger Syndrome
• Best Vitelliform Macular Dystrophy
• Bestrophinopathy, Autosomal Recessive
• Bothnia retinal dystrophy
• Choroideremia
• Cone-Rod Dystrophy, Autosomal Dominant
• Cone-Rod Dystrophy, Autosomal Recessive
• Congenital Nystagmus, X-linked
• Congenital Stationary Night Blindness, Autosomal Dominant
• Congenital Stationary Night Blindness, Autosomal Recessive
• Congenital Stationary Night Blindness, X-Linked
• Enhanced S-Cone Syndrome
• Familial Exudative Vitreoretinopathy
• Foveomacular Vitelliform Dystrophy, Adult-onset
• Fundus Albipunctatus
• Fundus Flavimaculatus
• Glaucoma, Juvenile Open Angle
• Glaucoma, Primary Congenital
• Glaucoma, Primary Open Angle
• Goldmann-Favre Syndrome
• Iris Hypoplasia
• Leber Congenital Amaurosis, Autosomal Dominant
• Leber Congenital Amaurosis, Autosomal Recessive
• Macular Dystrophy, Autosomal Dominant
• Macular Dystrophy, Autosomal Recessive
• Microphthalmia
• Microphthalmia, Lenz Syndrome
• Newfoundland Rod-Cone Dystrophy
• Norrie Disease
• Oculo Facio Cardio Dental Syndrome
• Peter’s Anomaly
• Retinitis Pigmentosa, Autosomal Dominant (adRP)
• Retinitis Pigmentosa, Autosomal Recessive (arRP)
• Retinitis Pigmentosa, X-linked
• Retinitis Punctata Albescens
• Retinoschisis, Juvenile X-Linked
• Rieger Syndrome
• Septo-Optic Dysplasia
• Stargardt Disease
• Usher Syndrome
• Vitreoretinochoroidopathy, Autosomal Dominant

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Hematologic Disorders

• Blackfan-Diamond Syndrome
• Cartilage-Hair Hypoplasia
• Chuvash Type Polycythemia
• Congenital Amegakaryocytic Thrombocytopenia (CAMT)
• Cyclic Neutropenia
• Dyskeratosis Congenita
• Hereditary Angioedema (HAE) Type I-II
• Hereditary Angioedema (HAE) Type III
• Hermansky-Pudlak Syndrome
• Hoyeraal-Hreidarsson Syndrome (HHS)
• Neutropenia, X-linked
• Severe Congenital Neutropenia
• Shwachman-Diamond Syndrome (SDS)
• Thrombocytopenia, X-linked
• Wiskott-Aldrich syndrome

Hereditary Cancer Syndromes

• Bannayan-Riley-Ruvalcaba Syndrome
• Basal cell nevus syndrome
• Birt-Hogg-Dube Syndrome
• Bloom Syndrome
• Cowden Syndrome
• Familial Cutaneous Malignant Melanoma
• Familial Isolated Hyperparathyroidism (FIHP)
• Familial Medullary Thyroid Cancer
• Fumarate Hydratase Deficiency
• Gorlin Syndrome
• Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
• Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL/PCC)
• Hyperparathyroidism-Jaw Tumor Syndrome
• Juvenile Polyposis Syndrome (JPS)
• Juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia (JPS-HHT)
• Li-Fraumeni Syndrome (LFS)
• Multiple Endocrine Neoplasia 2A
• Multiple Endocrine Neoplasia 2B
• Multiple Endocrine Neoplasia Type 1
• Nevoid basal cell carcinoma syndrome
• Parathyroid Carcinoma
• Peutz-Jeghers Syndrome
• Pneumothorax, Primary Spontaneous
• Proteus Syndrome/Proteus-like Syndrome
• PTEN associated Macrocephaly/Autism Syndrome
• Von Hippel-Lindau syndrome
• Wermer syndrome

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Immunologic Disorders

• Adenosine Deaminase Deficiency
• Agammaglobulinemia, X-linked
• APECED
• Autoimmune Lymphoproliferative Syndrome (ALPS) Type 1A
• Autoimmune Lymphoproliferative Syndrome Type IIA (ALPS IIA)
• Autoimmune Lymphoproliferative Syndrome Type IIB (ALPS IIB)
• Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy
• Autoimmune Polyglandular Syndrome
• Bloom Syndrome
• Bruton type agammaglobulinemia
• Cartilage-Hair Hypoplasia
• Chronic Granulomatous Disease (CGD)
• Cyclic Neutropenia
• Hereditary Angioedema (HAE) Type I-II
• Hereditary Angioedema (HAE) Type III
• Hyper-IgD Syndrome
• Hyper-IgE Syndrome (HIES)
• Immunodeficiency Syndrome with Hyper-IgM
• Invasive Pneumococcal Disease
• IRAK4 Deficiency
• Jobs Syndrome
• Leukocyte Adhesion Deficiency Type 1
• LIG4 Syndrome
• Neonatal Onset Multisystem Inflammatory Disease
• Netherton Syndrome
• Neutropenia, X-linked
• Neutrophil Immunodeficiency Syndrome
• Omenn Syndrome
• Purine Nucleoside Phosphorylase Deficiency
• Reticular Dysgenesis
• Severe Combined Immune Deficiency (SCID)
• Severe Combined Immune Deficiency (SCID), ADA Type
• Severe Combined Immune Deficiency (SCID), DCLRE1C Type
• Severe Combined Immune Deficiency (SCID), IL7R Type
• Severe Combined Immune Deficiency (SCID), JAK3 Type
• Severe Combined Immune Deficiency (SCID), RAG Type
• Severe Combined Immune Deficiency (XSCID), X-linked
• Severe Combined Immune Deficiency with Radiation Sensitivity
• Severe Congenital Neutropenia
• Thrombocytopenia, X-linked
• Wiskott-Aldrich syndrome

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Metabolic Disorders

• 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency
• 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
• 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
• 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency
• 3-Methylglutaconic Aciduria Type I
• 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
• Arginase Deficiency
• Argininosuccinic Aciduria
• Aspartylglucosaminuria
• Beta-Ketothiolase Deficiency
• Biotinidase Deficiency
• Canavan Disease
• Carnitine Acylcarnitine Translocase Deficiency
• Carnitine Palmitoyltransferase IA Deficiency
• Carnitine Palmitoyltransferase II (CPT2) Deficiency
• Citrin deficiency
• Classic Citrullinemia
• Cobalamin Metabolism and Related Disorders
• Combined Malonic and Methylmalonic Aciduria (CMAMMA)
• Combined Saposin Deficiency
• Dent Disease 2
• Dihydrolipoamide Dehydrogenase Deficiency
• Dihydropteridine Reductase (DHPR) Deficiency
• Dopa-Responsive Dystonia
• Ethylmalonic Encephalopathy
• Fabry Disease
• Familial Amyloid Polyneuropathy
• Fatty Acid Oxidation Disorders
• Free Sialic Acid Storage Disorders
• Fucosidosis
• Fumarate Hydratase Deficiency
• Galactokinase deficiency
• Galactosemia
• Glutaric Aciduria Type I
• Glutaric Aciduria Type II
• Glycerol Kinase Deficiency
• Glycogen Storage Disease Type II
• Glycogen Storage Disease Type V (GSD V)
• GM1-Gangliosidosis
• GTP Cyclohydrolase I Deficiency
• Hawkinsinuria
• HMG-CoA Lyase Deficiency
• Holocarboxylase Synthetase Deficiency / Multiple Carboxylase Deficiency
• Homocystinuria due to Cystathionine Beta-Synthase Deficiency
• Hydroxysteroid (17 Beta) Dehydrogenase 10 Deficiency
• Hyperammonemia Related Disorders
• Infantile Parkinsonism, Autosomal Recessive
• Isobutyryl-CoA Dehydrogenase Deficiency
• Isovaleric Acidemia
• Krabbe Disease
• Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
• Lowe Syndrome (Oculocerebrorenal syndrome of Lowe)
• Lysosomal Acid Lipase Deficiency
• Malonyl-CoA Decarboxylase Deficiency
• Maple Syrup Urine Disease (MSUD)
• Maple Syrup Urine Disease, Type III
• Maroteaux-Lamy Syndrome
• McArdle Disease
• Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
• Metachromatic Leukodystrophy
• Methionine Adenosyltransferase I/III Deficiency
• Methylmalonic Acidemia
• Methylmalonic Aciduria and Homocystinuria, cobalamin C (cblC) Type
• Morquio B Disease
• Morquio Syndrome A
• Mucolipidosis I
• Mucolipidosis IV
• Mucopolysaccharidosis IIIA, IIIB, IIIC and IIID
• Mucopolysaccharidosis Type IVA
• Mucopolysaccharidosis Type IVB
• Mucopolysaccharidosis VI (MPSVI)
• Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
• Multiple Sulfatase Deficiency
• N-Acetylglutamate Synthase Deficiency (NAGS)
• Neuronal Ceroid-Lipofuscinosis 2 (CLN2)
• Niemann-Pick Disease, Type C
• Niemann-Pick Disease, Types A and B
• Ornithine Transcarbamylase (OTC) Deficiency
• Phenylketonuria
• Pompe Disease
• Primary/Systemic Carnitine Deficiency
• Propionic Acidemia
• Pyruvate Carboxylase Deficiency
• Pyruvate Dehydrogenase E1-Alpha Deficiency
• Pyruvate Dehydrogenase E1-Beta Deficiency
• Salla Disease
• Sandhoff Disease
• Sanfilippo Syndrome A, B, C and D
• Saposin A Deficiency
• Saposin B Deficiency
• Saposin C Deficiency
• Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
• Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency
• Sialidosis
• Smith-Lemli-Opitz Syndrome
• Tay-Sachs Disease
• Tyrosine Hydroxylase Deficiency
• Tyrosinemia Type I
• Tyrosinemia type II
• Tyrosinemia type III
• Urea Cycle Disorders
• Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency

Mitochondrial Disorders

• Acyl-CoA dehydrogenase 9 (ACAD9) deficiency
• Alpers syndrome (Alpers-Huttenlocher syndrome)
• Ataxia with Oculomotor Apraxia 1(AOA1)
• Barth syndrome
• Bjornstad Syndrome
• Carnitine Acylcarnitine Translocase Deficiency
• Chronic Intestinal Pseudoobstruction with Myopathy and Ophthalmoplegia (CIPO)
• Chronic Progressive External Ophthalmoplegia (CPEO)
• Combined OXPHOS Deficiency
• Complex I Deficiency
• Complex II Deficiency (MT-C2D)
• Complex III Deficiency
• Complex IV(Cytochrome C Oxidase) Deficiency
• Complex V (ATP Synthesis) Deficiency
• COQ10 Deficiency
• Deafness-Dystonia-Optic Neuronopathy (DDON) Syndrome
• Diabetes and Hearing Loss
• Fructose-1,6-Bisphosphatase Deficiency
• Glycogen Storage Disease 1a
• Glycogen Storage Disease, Type 0
• Gracile Syndrome
• Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis (HUPRA) Syndrome
• Jensen Syndrome
• Kearns-Sayre Syndrome (KSS)
• Lactic acidosis
• Lebers Hereditary Optic Neuropathy (LHON)
• Leigh Syndrome
• Maple Syrup Urine Disease, Type III
• Maternally Inherited Deafness or Aminoglycoside-Induced Deafness
• Maternally Inherited Diabetes and Deafness (MIDD)
• Maternally Inherited Diabetes Mellitus (MIDM)
• Methylglutaconic Aciduria
• Mitochondrial DNA depletion syndrome
• Mitochondrial DNA Depletion/Multiple Deletion
• Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)
• Mitochondrial Encephalopathy
• Mitochondrial Myopathy (MM)
• Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA)
• Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)
• Mitochondrial Phosphate Carrier Deficiency
• Mitochondrial Super-Complex Deficiency
• Mitochondrial Trifunctional Protein (MTP) Deficiency
• Mohr-Tranebjaerg Syndrome
• Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
• Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP)
• Optic Atrophy
• Pearson Syndrome
• Pontocerebellar Hypoplasia Type 6
• Progressive External Ophthalmoplegia (PEO)
• Pyruvate dehydrogenase complex deficiency
• Pyruvate Metabolism
• Sensorineural Hearing Loss (SNHL)
• Sideroblastic Anemia
• Spastic Paraplegia 7
• Wolfram Syndrome

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Neurological Disorders

• Achalasia-Addisonianism-Alacrima
• Adenylosuccinate Lyase Deficiency
• Aicardi-Goutieres Syndrome
• Alexander Disease
• Allgrove Syndrome
• Alpers syndrome (Alpers-Huttenlocher syndrome)
• Anauxetic Dysplasia
• Angelman syndrome (AS)
• Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)
• Atypical Rett Syndrome
• Autism Spectrum Disorders
• Benign Familial Infantile Seizures (BFIS)
• Benign Familial Neonatal Seizures (BFNS)
• Benign Familial Neonatal-Infantile Seizures (BFNIS)
• Biotinidase Deficiency
• Cerebral Cavernous Malformation (CCM)
• Coffin-Lowry Syndrome (CLS)
• Cohen Syndrome
• Congenital Insensitivity to Pain (CIP)
• Congenital Insensitivity to Pain with Anhidrosis
• Cornelia de Lange Syndrome
• CRASH Syndrome
• Creatine Deficiency Syndromes
• Cutis Laxa, Autosomal Dominant
• Dihydrolipoamide Dehydrogenase Deficiency
• Dopa-Responsive Dystonia
• Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
• Epilepsy and Mental Retardation Limited to Females
• Epilepsy with Variable Learning and Behavioral Disorders
• Fabry Disease
• Familial Hemiplegic Migraine (sometimes a/w seizures)
• Fragile X Syndrome
• Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
• Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
• Glucose Transporter Type I Deficiency Syndrome
• Hereditary Inclusion Body Myopathy (HIBM)
• Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN 4)
• Holoprosencephaly
• Hydrocephalus, X-linked
• Infantile Parkinsonism, Autosomal Recessive
• Infantile Spasm Syndrome-2, X-linked
• Inherited Erythromelalgia (IEM)
• Juvenile Myoclonic Epilepsy
• KBG Syndrome
• Lafora Disease
• MASA Syndrome
• Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
• Mowat-Wilson Syndrome
• Mucolipidosis IV
• Nemaline Myopathy
• Neuronal Ceroid Lipofuscinoses (NCL)
• Niemann-Pick Disease, Type C
• Niemann-Pick Disease, Types A and B
• Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant
• Ohtahara Syndrome
• Ornithine Transcarbamylase (OTC) Deficiency
• Paroxysmal Extreme Pain Disorder (PEPD)
• Paroxysmal Kinesigenic Dyskinesia (PKD)
• Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (PKD/IC or ICCA)
• Partial Epilepsy with Auditory Features, Autosomal Dominant
• Prader-Willi syndrome (PWS)
• Premature Ovarian Failure (FMR1-Associated)
• Progressive Myoclonic Epilepsy
• Progressive Neurodevelopmental Syndrome in Males
• Pyridoxine Dependent Seizures
• Rett syndrome
• Rubinstein-Taybi Syndrome (RSTS)
• Septo-Optic Dysplasia
• Simpson-Golabi-Behmel Syndrome (SGBS)
• Small Fiber Neuropathy (SFN)
• Smith-Lemli-Opitz Syndrome
• Smith-Magenis Syndrome (SMS)
• Sotos Syndrome
• Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)
• Supravalvular Aortic Stenosis
• Tay-Sachs Disease
• Triple-A Syndrome
• Tyrosine Hydroxylase Deficiency
• Unverricht-Lundborg Disease (Baltic Myoclonus)
• Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
• West Syndrome
• Williams-Beuren syndrome

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Prenatal Diagnosis

• 46,XY Gonadal Dysgenesis (SRY-related)
• Acro-Renal-Ocular syndrome
• Androgen Insensitivity Syndrome (AIS)
• Anophthalmia
• Campomelic Dysplasia (CD)
• CHARGE Syndrome
• Chromosomal Abnormalities
• CRASH Syndrome
• DiGeorge syndrome
• Duane-Radial Ray syndrome
• Ectrodactyly
• Hay-Wells Syndrome
• Holoprosencephaly
• Holt-Oram syndrome
• Hydrocephalus, X-linked
• MASA Syndrome
• Microphthalmia
• Noonan Syndrome
• Open Spine/Abdominal Wall Defects
• Smith-Lemli-Opitz Syndrome
• Townes-Brocks Syndrome
• Uniparental Disomy
• Velocardiofacial syndrome

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Renal Disorders

• Alport Syndrome
• Birt-Hogg-Dube Syndrome
• Branchiootic Syndrome
• Branchiootorenal syndrome
• Dent Disease
• Dent Disease 2
• Familial Isolated Hyperparathyroidism (FIHP)
• Fumarate Hydratase Deficiency
• Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
• Hyperparathyroidism-Jaw Tumor Syndrome
• Oral-Facial-Digital syndrome Type 1
• Parathyroid Carcinoma
• Pneumothorax, Primary Spontaneous
• Renal-Coloboma Syndrome / Papillorenal Syndrome

Rheumatologic Disorders

• Chronic Infantile Neurologic Cutaneous and Articular Syndrome
• Familial Cold Autoinflammatory Syndrome
• Familial Cold Urticaria syndrome
• Familial Hibernian Fever
• Familial Mediterranean Fever
• Hyper-IgD Syndrome
• Majeed Syndrome
• Muckle-Wells Syndrome
• Neonatal Onset Multisystem Inflammatory Disease
• Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome
• TNF Receptor-Associated Periodic Syndrome

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Skeletal Disorders

• Acro-Renal-Ocular syndrome
• Anauxetic Dysplasia
• Basal cell nevus syndrome
• Campomelic Dysplasia (CD)
• Cartilage-Hair Hypoplasia
• Cherubism
• Chondrodysplasia Punctata (CDPX1), X-Linked Recessive
• Coffin-Lowry Syndrome (CLS)
• Duane-Radial Ray syndrome
• Gorlin Syndrome
• Hereditary Multiple Exostoses (HME)
• Holt-Oram syndrome
• Hyperostosis Corticalis Generalisata, benign form of worth with Torus Palatinus
• Hypophosphatemic Rickets, X-linked
• Metaphyseal Dysplasia without Hypotrichosis
• Multiple Epiphyseal Dysplasia (MED)
• Nevoid basal cell carcinoma syndrome
• Osteopetrosis Type 1, Autosomal Dominant
• Osteoporosis-Pseudoglioma Syndrome
• Pseudo-Vitamin D-Deficiency Rickets
• Pseudoachondroplasia (PSACH)
• Rickets, Hypophosphatemic, Autosomal Dominant
• Rickets, Hypophosphatemic, Autosomal Recessive
• Townes-Brocks Syndrome
• Van Buchem Disease Type 2

Skin Disorders

• Basal cell nevus syndrome
• Birt-Hogg-Dube Syndrome
• Bloom Syndrome
• Bullous Ichthyosiform Erythroderma
• Carney Complex
• Chanarin-Dorfman syndrome
• Clefting Syndrome
• Clouston Syndrome
• Collodion Baby
• Congenital Insensitivity to Pain with Anhidrosis
• Cutis Laxa, Autosomal Dominant
• Darier Disease
• Dyskeratosis Congenita
• Dystrophic Epidermolysis Bullosa (DEB)
• Ectodermal Dysplasia
• Ectrodactyly
• Epidermolysis Bullosa (EB)
• Epidermolysis Bullosa Dystrophica
• Epidermolysis Bullosa Simplex
• Epidermolysis Bullosa, Junctional Type
• Epidermolysis Bullosa, Junctional with Muscular Dystrophy
• Epidermolysis Bullosa, Junctional with Pyloric Atresia
• Epidermolytic Ichthyosis
• Epidermolytic Palmoplantar Keratoderma (EPPK)
• Erythrokeratodermia Variabilis (EKV)
• Familial Cutaneous Malignant Melanoma
• Ferguson-Smith Disease
• Focal Dermal Hypoplasia
• Fumarate Hydratase Deficiency
• Generalized Atrophic Benign Epidermolysis Bullosa (GABEB)
• Goltz Syndrome
• Gorlin Syndrome
• Hailey-Hailey disease
• Harlequin Ichthyosis
• Hay-Wells Syndrome
• Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
• Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN 4)
• Herlitz Junctional Epidermolysis Bullosa
• Hermansky-Pudlak Syndrome
• Hidrotic ectodermal dysplasia
• Hoyeraal-Hreidarsson Syndrome (HHS)
• Hyper-IgE Syndrome (HIES)
• Hypo-/Anhidrotic Ectodermal Dysplasia
• Ichthyosis Follicularis with Atrichia and Photophobia (IFAP)
• Ichthyosis Prematurity Syndrome
• Ichthyosis Vulgaris
• Ichthyosis, Congenital Recessive
• Jobs Syndrome
• Keratitis-Ichthyosis-Deafness syndrome (KID syndrome)
• Keratosis Follicularis Spinulosa Decalvans (KFSD)
• Lamellar Ichthyosis Type 1
• Lamellar Ichthyosis Type 2
• Mitis Junctional Epidermolysis Bullosa
• Netherton Syndrome
• Neutral lipid storage disease with ichthyosis (NLSD)
• Nevoid basal cell carcinoma syndrome
• Non-Bullous Congenital Ichthyosiform Erythroderma
• Non-epidermolytic Palmoplantar Keratoderma (NEPPK)
• Non-Herlitz Junctional Epidermolysis Bullosa
• Odonto-onycho-dermal dysplasia (OODD)
• Pachyonychia Congenita type 1 (PC1)
• Pachyonychia Congenita type 2 (PC2)
• Pneumothorax, Primary Spontaneous
• Pseudoxanthoma Elasticum (PXE)
• Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome
• Schopf-Schulz-Passarge Syndrome (SSPS)
• Sjogren Larsson Syndrome (SLS)
• Split Hand - Split Foot Malformation
• Steatocystoma Multiplex
• Superficial Epidermolytic Ichthyosis
• Unna-Thost disease
• Vohwinkel syndrome
• Vorner syndrome
• White Sponge Nevus

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