J0641
Myoclonic Epilepsy with Ragged Red Fibers, MERFF, molecular diagnostics, special case
1 494,00
J0651
Mitochondrial depletion syndrome, molecular diagnostics, special case
633,00
J0652
Mitochondrial depletion syndrome, biochemical diagnostics
J0661
Alzheimer, early onset/familial, molecular diagnostics, special case
J0671
Ataxia Telangiectasia, molecular diagnostics, special case
J0673
Ataxia Telangiectasia, cytogenetic diagnostics
4 613,00
J0681
Charcot-Marie-Tooth neuropathy, molecular diagnostics, special case
1 292,00
J0691
Creutzfeldt-Jakob disease, familial, molecular diagnostics, special case
J0701
Duchenne, Becker muscular dystrophy, molecular diagnostics, special case
9 011,00
J0710
Familial dysautonomia, molecular diagnostics
411,00
J0720
Dystonia, torsion, molecular diagnostics
816,00
J0730
Facioscapulohumeral muscular dystrophy-1A, molecular diagnostics
J0740
Hereditary Nerve Pressure Palsy, HNPP, molecular diagnostics
J0750
Huntington disease, molecular diagnostics
J0761
Inclusion body myopathy, autosomal recessive, molecular diagnostics, special case
J0771
Insensitivity to pain, congenital, with anhidrosis, molecular diagnostics, special case
J0781
LGMD (Limb girdle muscular dystrophy), dysferlin deficiency, molecular diagnostics, special case
J0790
Myotonic dystrophy, molecular diagnostics
J0801
Neurofibromatosis, type 1, molecular diagnostics, special case
J0810
Oculopharyngeal muscular dystrophy, molecular diagnostics
J0820
SMA (Spinal Muscular Atrophy), molecular diagnostics
J0830
Spinocerebellar ataxia due to an expansion including Friedrich ataxia, molecular diagnostics
J0840
Adenomatous polyposis coli, molecular diagnostics
7 247,00
J0841
Adenomatous polyposis coli, molecular diagnostics, special case
J0850
Multiple endocrine neoplasia 2A, molecular diagnostics
1 631,00
J0851
Multiple endocrine neoplasia 2A, molecular diagnostics, special case
J0860
Retinoblastoma, molecular diagnostics
J0861
Retinoblastoma, molecular diagnostics, special case
J0870
Von Hippel-Lindau, molecular diagnostics
1 329,00
J0871
Von Hippel-Lindau, molecular diagnostics, special case
J0881
Adrenal hyperplasia, congenital, 11-beta-hydroxylase deficiency, molecular diagnostics, special case
J0891
Adrenal hyperplasia, congenital, 17-alpha-hydroxylase deficiency, molecular diagnostics, special case
J0901
Adrenal hyperplasia, congenital, 21-hydroxylase deficiency, molecular diagnostics, special case
J0911
Adrenal hypoplasia, congenital, molecular diagnostics, special case
J0921
Pendred syndrome, molecular diagnostics, special case
J0931
Persistent hyperinsulinemic hypoglycemia of infancy, molecular diagnostics, special case
J0941
Combined factor V and VII deficiency, molecular diagnostics, special case
J0951
Factor V deficiency, molecular diagnostics, special case
J0961
Factor VII deficiency, molecular diagnostics, special case
J0971
Factor XI deficiency, molecular diagnostics, special case
J0981
Factor XIIIA deficiency, molecular diagnostics, special case
J0991
Fanconi anemia, molecular diagnostics, special case
J0993
Fanconi anemia, cytogenetic diagnostics
J1001
Hemoglobinopathies alpha, alpha thalassemias, molecular diagnostics, special case
1 919,00
J1011
Hemoglobinopathies beta, beta thalassemias, molecular diagnostics, special case
J1021
Hemophilia A, factor VIII deficiency, molecular diagnostics, special case
J1031
Hemophilia B, factor IX deficiency, molecular diagnostics, special case
J1040
Achondroplasia/thanatophoric dwarfism, molecular diagnostics
J1051
Achromatopsia, molecular diagnostics, special case
J1061
Albinism, molecular diagnostics, special case
J1070
Angelman syndrome/Prader Willi, molecular diagnostics
J1081
Autoimmune polyglandular disease, type I, molecular diagnostics, special case
J1091
Bardet-Biedl syndrome, molecular diagnostics, special case
J1100
Beckwith-Wiedemann syndrome, molecular diagnostics
J1111
Bloom syndrome, molecular diagnostics, special case
J1113
Bloom syndrome, cytogenetic diagnostics
J1121
Cockayne syndrome, molecular diagnostics, special case
J1122
Cockayne syndrome, biochemical diagnostics
6 116,00
J1131
Craniosynostosis, molecular diagnostics, special case
J1140
Cystic fibrosis, molecular diagnostics
J1151
Deafness, congenital, molecular diagnostics, special case
J1161
Epidermolysis Bullosa, congenital, molecular diagnostics, special case
J1171
Osteopetrosis, recessive, molecular diagnostics, special case
J1181
Polycystic kidneys, dominant, molecular diagnostics, special case
J1191
Polycystic kidneys, recessive, molecular diagnostics, special case
J1203
Roberts syndrome, cytogenetic diagnostics
J1211
Tuberous sclerosis, molecular diagnostics, special case
J1222
Xeroderma pigmentosum, biochemical diagnostics
J1233
DiGeorge/velocardiofacial syndrome, FISH, cytogenetic diagnostics
1 934,00
J1243
Rubinstein-Taybi syndrome, FISH, cytogenetic diagnostics
J1253
Smith-Magenis syndrome, FISH, cytogenetic diagnostics
