Enfermedades Raras Que Diagnosticamos

Podemos analizar al menos 200 genes humanos COMPLETOS, cruzar datos y resultados y con ello generar un diagnóstico FIABLE.

------ A ------
• ADA Severe Combined Immunodeficiency
• Adenosine Deaminase Deficiency
• Alagille Syndrome NEW: Includes Deletion Testing!
• Alexander Disease
• Allgrove syndrome; Achalasia-Addisonianism-Alacrima
• Alport Syndrome
• Amegakaryocytic Thromobocytopenia, congenital
• Anauxetic Dysplasia
• Androgen Insensitivity Syndrome
• Angelman Syndrome (AS), Angelman-like syndrome (X-Linked Syndromic Mental Retardation, Christianson Type) NEW
• Aniridia
• Anophthalmia
• Antley-Bixler Syndrome (ABS)
• APECED
• Aromatase Deficiency
• Atypical Rett syndrome
• Autism/Macrocephaly
• Autoimmune Lymphoproliferative Syndrome (ALPS)
• Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal DystrophySyndrome
• Autosomal Recessive (ADA SCID)
• Autosomal Recessive Hypophosphatemic Rickets (ARHR)
• Autosomal Recessive Retinitis Pigmentosa (arRP)
• Autoimmune Polyglandular Syndrome
• Axenfeld-Rieger Syndrome

------ B ------
• Bannayan-Riley-Ruvalcaba syndrome
• Basal cell nevus syndrome NEW: Now includes Deletion Testing!
• Best vitelliform macular dystrophy (Best disease) NEW
• Bestrophinopathy, autosomal recessive NEW
• Beta-Ketothiolase Deficiency
• Biotinidase Deficiency
• Birt-Hogg-Dube Syndrome
• Blackfan-Diamond Syndrome
• Bloom Syndrome NEW
• Branchiootic Syndrome
• Branchiootorenal Syndrome
• Bruton type agammaglobulinemia NEW: Includes Deletion Testing!
• Bullous ichthyosiform erythroderma

------ C ------
• Campomelic Dysplasia
• Cardiac Amyloidosis; Transthyretin Amyloidosis
• Cardiofaciocutaneous Syndrome, Cardio-Facio-Cutaneous (CFC) Syndrome NEW: NEW 8 Gene Panel!
• Carney Complex
• Carnitine Palmitoyltransferase II (CPT2) Deficiency
• Cartilage Hair Hypoplasia
• Chanarin-Dorfman Syndrome
• CHARGE Syndrome
• Cherubism
• Choroideremia
• Chronic Granulomatous Disease
• Classic Citrullinemia NEW!
• Clouston syndrome
• Coffin-Lowry Syndrome
• Cohen syndrome
• Cold Autoinflammatory Syndrome (FCAS) NEW 7 Gene Panel!
• Collodion baby (lamellar ichthyosis)
• Collodion baby (congenital ichthyosiform erythroderma)
• Cone Rod Dystrophy Autosomal Dominant
• Cone Rod Dystrophy Autosomal Recessive
• Congenital insensitivity to pain with anhidrosis (CIPA)
• Congenital Neutropenia, recessive
• Congenital Recessive Ichthyosis (erythrodermic type)
• Costello syndrome (Facio-cutaneo-skeletal syndrome; FCS syndrome) NEW: NEW 8 Gene Panel!
• Cowden Syndrome
• Craniofrontonasal syndrome (CFNS)
• Cutis Laxa (autosomal dominant) NEW
• Cyclic neutropenia NEW 7 Gene Panel!
• Cytochrome P450 Oxidoreductase Deficiency

------ D ------
• Danon Disease
• Darier disease
• Dent disease
• Developmental Eye Disease
• Diamond-Blackfan Anemia
• DiGeorge Syndrome and Velocardiofacial Syndrome
• Dilated Cardiomyopathy
• Dopa-responsive Dystonia
• Duane-Radial Ray syndrome / Acro-Renal-Ocular syndrome
• Dyskeratosis Congenita (DKC)
• Dystrophic Epidermolysis Bullosa

------ E ------
• Ectodermal dysplasia NEW!
• Ectrodactyly - Ectodermal Dysplasia - Clefting Syndrome
• Epidermolysis Bullosa Dystrophica
• Epidermolysis Bullosa, Junctional Type
• Epidermolysis bullosa, junctional with Muscular Dystrophy
• Epidermolysis Bullosa, Junctional with Pyloric Atresia
• Epidermolysis Bullosa Simplex
• Epidermolytic hyperkeratosis
• Epidermolytic PPK
• Erythrokeratodermia variabilis

------ F ------
• Fabry disease
• Familial Cold Urticaria syndrome NEW 7 Gene Panel!
• Familial Cutaneous Malignant Melanoma
• Familial Exudative Vitreoretinopathy (FEVR)
• Familial Hypocalciuric Hypercalcemia
• Familial Isolated Hyperparathyroidism (FIHP)
• Familial Medullary Thyroid Carcinoma (FMTC)
• Familial Multiple Mole and Melanoma Syndrome
• Familial Hibernian Fever (TRAPS) NEW 7 Gene Panel!
• Familial Mediterranean Fever NEW 7 Gene Panel!
• Feingold syndrome
• Focal Dermal Hypoplasia (FDH) / Goltz Syndrome NEW: Includes Deletion Testing!
• Foveomacular vitelliform dystrophy, adult-onset NEW
• Fumarase Hydratase Deficiency (FHD)

------ G ------
• Glaucoma
• Glutaric Aciduria Type I (GA1)
• Glutaric Aciduria II (GAII)/ Multiple Acyl-Coa Dehydrogenase Deficiency (MADD)
• Glycogen Storage Disease Type II (GSDII) or Pompe Disease
• Goltz Syndrome
• Gorlin Syndrome (Basal cell nevus syndrome, Nevoid basal cell carcinoma syndrome) NEW: Includes Deletion Testing!
• GTP Cyclohydrolase I Deficiency

------ H ------
• Hailey-Hailey disease (HHD; familial benign chronic pemphigus)
• Harlequin Ichthyosis (HI)
• Hay-Wells Syndrome
• Hereditary Angioedema NEW: Includes Deletion Testing!
• Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
• Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL/PCC)
• Herlitz Junctional Epidermolysis Bullosa
• Hermansky-Pudlak syndrome
• Hidrotic ectodermal dysplasia
• Hirschsprung Disease (HSCR)
• HMG CoA Lyase Deficiency (3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency)
• Holocarboxylase Synthetase Deficiency (Multiple Carboxylase Deficiency)
• Holoprosencephaly NEW: Includes Deletion Testing!
• Holt-Oram Syndrome
• Homocystinuria due to Cystathionine β-Synthase Deficiency
• Hyper-IgD Syndrome (HIDS) NEW 7 Gene Panel!
• Hyper-IgE Recurrent Infection Syndrome; Job's Syndrome; HIES
• Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT)
• Hypertrophic Cardiomyopathy
• Hyperostosis corticalis generalisata, benign form of worth with torus palatinus NEW!
• Hypo-/Anhidrotic ectodermal dysplasia (X-linked)
• Hypocalcemia, Autosomal Dominant
• Hypohidrotic Ectodermal Dypslasia (Autosomal Dominant)
• Hypohidrotic Ectodermal Dysplasia (Autosomal Recessive)
• Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID) / Incontinentia Pigmenti (IP)
• Hypophosphatemic rickets (autosomal dominant form)
• Hypophosphatemic rickets (X-linked form) NEW: Includes Deletion Testing!
• Hypoparathyroidism, Familial Isolated

------ I ------
• Ichthyosis bullosa of Siemens
• Ichthyosis linearis circumflexa
• Ichthyosis vulgaris (IV), with or without associated atopic dermatitis
• IL7R Severe Combined Immunodeficiency, Autosomal Recessive (IL7R SCID)
• Immunodeficiency Syndrome with Hyper IgM, Type 2
• Inclusion Body Myopathy, Hereditary (HIBM)
• Incontinentia Pigmenti (IP) / Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID)
• Infantile Spasm Syndrome-2, X-linked
• IRAK4 Deficiency, Invasive Pneumococcal Disease
• Isobutyryl-CoA Dehydrogenase Deficiency
• Isovaleric Acidemia

------ J ------
• JAK3 Severe Combined Immunodeficiency, Autosomal Recessive (JAK3 SCID)
• Job's Syndrome; HIES; Hyper-IgE Recurrent Infection Syndrome
• Junctional Epidermolysis Bullosa
• Junctional Epidermolysis Bullosa with Pyloric Atresia
• Juvenile Retinoschisis

------ K ------
• Kallmann Syndrome
• Keratitis-Ichthyosis-Deafness Syndrome (KID Syndrome)
• Ketothiolase Deficiency NEW

------ L ------
• Lamellar ichthyosis (type 1)
• Lamellar ichthyosis (type 2)
• LEOPARD Syndrome NEW: NEW 8 Gene Panel!
• Leber Congenital Amaurosis Autosomal Dominant
• Leber Congenital Amaurosis Autosomal Recessive
• Lenz Microphthalmia Syndrome (LMS) / OculoFacioCardioDental Syndrome (OFCD)
• Leukocyte Adhesion Deficiency
• Lhermitte-Duclos disease
• Limb-Mammary Syndrome
• Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase (LCHAD) Deficiency / Mitochondrial Trifunctional Protein (MTP) Deficiency
• Long QT syndrome NEW: Available!
• Lowe Syndrome

------ M ------
• Malonyl-CoA Decarboxylase Deficiency NEW
• 3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency
• Majeed syndrome NEW 7 Gene Panel!
• Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
• Metaphyseal Dysplasia without Hypotrichosis
• Methylmalonic Acidemia
• Methylmalonic Aciduria and Homocystinuria, Cobalamin C (cblC) Type
• Microphthalmia
• Mucolipidosis Type IV
• Muckle-Wells syndrome NEW 7 Gene Panel!
• Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)/ Glutaric Aciduria II (GAII)
• Multiple Endocrine Neoplasia type 1
• Multiple Endocrine Neoplasia type 2A
• Multiple Endocrine Neoplasia type 2B
• Multiple Epiphyseal Dysplasia (MED)
• Multiple Exostoses, hereditary (HME) NEW: Includes Deletion Testing!

------ N ------
• Nemaline Myopathy
• Neutropenia, Congenital and Cyclic
• Neonatal Onset Multisystem Inflammatory Disease (NOMID) NEW 7 Gene Panel!
• Neonatal Severe Primary Hyperparathyroidism
• Netherton syndrome (NTS)
• Neutral lipid storage disease with ichthyosis (NLSD)
• Nevoid basal cell carcinoma syndrome
• Niemann-Pick Disease, Types A and B
• Niemann-Pick Disease, Type C
• NOMID/CINCA Syndrome
• Non-bullous congenital ichthyosiform erythroderma (NBCIE)
• Non-epidermolytic PPK
• Non-Herlitz Junctional Epidermolysis Bullosa
• Noonan Syndrome NEW: NEW 9 Gene Panel!
• Noonan Syndrome - Prenatal Testing based on ultrasound findings
• Non-syndromic Autism or Autism spectrum disorder

------ O ------
• OculoFacioCardioDental Syndrome (OFCD) / Lenz Microphthalmia Syndrome (LMS)
• Odonto-onycho-dermal dysplasia (OODD) NEW!
• Omenn Syndrome, RAG or DCLRE1C types NEW: Includes Deletion Testing!
• Oral-Facial-Digital syndrome Type 1
• Ornithine Transcarbamylase (OTC) Deficiency NEW: Includes Deletion Testing!
• Osteoporosis-Pseudoglioma syndrome NEW!
• Osteopetrosis type 1, autosomal dominant NEW!

------ P ------
• 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
• Pachyonychia congenita, types I, II
• Parathyroid Carcinoma
• Phenylketonuria (PKU)
• Pneumothorax, Primary Spontaneous
• Pompe Disease or Glycogen Storage Disease Type II (GSDII)
• Popliteal Pterygium Syndrome
• POR Deficiency
• Predisposition to Pyogenic Infections
• Primary/Systemic Carnitine Deficiency
• Propionic Acidemia
• Pseudo-vitamin D deficiency rickets (autosomal recessive)
• Pseudoachondroplasia (PSACH)
• Pseudohermaphroditism COMING SOON!
• Pseudoxanthoma Elasticum (PXE)
• Peutz-Jeghers SyndromeNEW: Includes Deletion Testing!
• Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome NEW 7 Gene Panel!

------ R ------
• Retinitis pigmentosa: Autosomal Recessive
• Retinitis pigmentosa: Autosomal Dominant
• Retinitis pigmentosa: X-linked
• Rett syndrome
• Rieger Syndrome
• Rubinstein-Taybi syndrome NEW: Includes Deletion Testing!



------ S ------
• Schöpf-Schulz-Passarge Syndrome (SSPS) NEW!
• Severe Combined Immunodeficiency, DCLRE1C type NEW: Includes Deletion Testing!
• Severe Combined Immunodeficiency, JAK3 type
• Severe Combined Immunodeficiency, RAG type
• Short/Branched Chain Acyl-CoA Dehydrogenase (SBCAD) Deficiency NEW
• Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
• Shwachman-Diamond Syndrome
• Sj�gren-Larsson syndrome
• Smith-Lemli-Opitz Syndrome
• Smith-Magenis Syndrome NEW: Includes Deletion Testing!
• Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)
• Split Hand - Split Foot Malformation
• Spondylometaepiphyseal Dysplasia, Menger type
• Stargardt Disease
• Steatocystoma multiplex
• Supravalvular Aortic Stenosis NEW
• Systemic/Primary Carnitine Deficiency

------ T ------
• Testicular Feminization Syndrome
• TNF Receptor-Associated Periodic Syndrome (TRAPS, Familial Hibernian Fever) NEW 7 Gene Panel!
• Townes-Brocks syndrome
• Transthyretin Amyloidosis; Cardiac Amyloidosis
• Triple-A syndrome (Allgrove syndrome; Achalasia-Addisonianism-Alacrima)
• Tyrosine Hydroxylase Deficiency/ Autosomal Recessive Infantile Parkinsonism
• Tyrosinemia Type I

------ U ------
• Unna-Thost disease

------ V ------
• Van Buchem disease type 2 NEW!
• Van der Woude Syndrome
• Velocardiofacial Syndrome and DiGeorge Syndrome
• Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
• Vitreoretinochoroidopathy, autosomal dominant NEW
• Vohwinkel syndrome
• Von Hippel Lindau Syndrome NEW: Includes Deletion Testing!
• Vörner disease

------ W ------
• Wermer syndrome
• Williams-Beuren syndrome
• White sponge nevus
• Wolff-Parkinson-White (WPW) Syndrome

------ X ------
• X-linked Agammaglobulinemia
• X-linked Hydrocephalus / Congenital stenosis of the aqueduct of Sylvius NEW: Includes Deletion Testing!
• X-linked recessive chondrodysplasia punctata NEW: Includes Deletion Testing!
• X-linked recessive nephrolithiasis
• X-linked recessive retinoschisis
• X-linked Retinitis Pigmentosa
• 46,XY Gonadal Dysgenesis
• XY Sex Reversal With or Without Adrenal Failure