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

Diagnóstico de Enfermedades Raras

Desde hace varios años, un grupo de profesionales de la medicina hemos venido notando el enorme vacío que existe en nuestro sistema sanitario y en nuestra sociedad para atender a pacientes de enfermedades raras y a sus familias. Estamos sopesando la posibilidad de ofrecer un servicio completo a estos pacientes, que vaya desde ayudar a cada paciente a su diagnóstico concreto, hasta buscar si existe en el mundo algún fármaco ya siendo usado contra su enfermedad.

Lo que nos gustaría hacer es para cada paciente en concreto, con la ayuda de su familia, es acotar las posibilidades de diagnóstico de su enfermedad a 5 patologías como mucho, ordenarlas de mayor a menor probabilidad y luego practicar los tests genéticos, celulares, subcelulares, bioquímicos, etc. Hemos alcanzado una alianza con varios centros hospitalarios mundiales y con varias empresas líderes en estos tests, para poder proporcionarlos en España de forma eficaz y reduciendo el coste al máximo. Si identificamos geneticamente, o por bioquímica u otra prueba, la patología, elaboramos un informe científico que inmediatamente puede llevarse al médico para que éste aconseje el tratamiento. Nosotros NO interferiremos con su médico, ni competiremos con él/ella, simplemente le aportaremos una información de ENORME valor, rigurosa y científica, y que le ayude a identificar su enfermedad.

EN unsa segunda fase, y una vez identificada la patología de un paciente en concreto, si no existe terapia o fármaco en España podemos buscarlo fuera. A veces hay fármacos aprobados en otros países que aún no han llegado aquí por distintas razones (burocráticas, no hay empresa interesada en comercializarlos, etc). En esos caso podemos buscar alternativas de tratamiento (como "uso compasivo", tratamiento en el extranjero, tratamiento "experimental" en España, etc).

COSTES. El coste de una prueba de diagnóstico varía de los 1.000 a los 1.500 €, tipicamente, con algunas que pueden llegar hasta los 5.000 €. Nosotros nos comprometeríamos a cobrar solamente las 5 primeras pruebas, a partir de ahí correríamos con los gastos de TODAS las demás hasta dar con el diagnóstico correcto. Si no somos capaces de dar con ese diagnóstico al cabo de 2 años, les devolvemos TODO el dinero que ustedes han desembolsado. Al coste de las pruebas hay que añadir el coste del tiempo de los distintos especialistas a los que consultamos en todo el mundo, y que en general oscilará entre los 50 y los 100 €/hora. Estimamos que necesitaremos entre 10 y 15 horas de consultoría para generar esa lista de hasta 5 patologías posibles. En el caso de que, en un estadio más avanzado, y tras el diagnóstico, se trate de traer un fármaco a España y/o de buscar una estrategia médica y legal para su administración RAPIDA aquí, se elaborará un segundo presupuesto de horas de trabajo, por adelantado.

Con este blog querríamos que ustedes, los pacientes y usuarios, valorasen nuestra iniciativa, que nos criticasen, que nos dijesen de qué nos hemos olvidado, qué necesitan, si este servicio les parece adecuado o no, etc.

Nuestro objetivo último, créanme, es ayudarles. Por favor. pídannos lo que necesiten, nosotros queremos trabajar para ustedes, ahorrarles sobre todo tiempo y frustración.

Gracias de antemano