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Heterozygote screening by NGS Inherited Disease Panel (Kingsmore panel)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 30/01/2018

Pränatal-Medizin München, Frauenärzte und Humangenetiker, Labor für molekulare Genetik
Pränatal-Medizin München MVZ GmbH
Aiblingerstr. 8
80639 MÜNCHEN
GERMANY
Director of laboratory : Dr Christoph BAGOWSKI
More information

Phone : 49 (0)89 1307 44 0
Additional Phone : -
Fax : 49 (0)89 1307 44 99
Website
Contact
email

Last update: January 2018

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

Sanger sequencing

Sequence analysis: entire coding region

NGS sequencing (except WES)

List of diseases and genes (Panel description)

List of diseases tested (259)

3-hydroxy-3-methylglutaric aciduria

3-methylglutaconic aciduria type 1

3-methylglutaconic aciduria type 3

46,XY complete gonadal dysgenesis

ALG1-CDG

ALG6-CDG

Acyl-CoA dehydrogenase 9 deficiency

Aicardi-Goutières syndrome

Allan-Herndon-Dudley syndrome

Alpers-Huttenlocher syndrome

Alpha-thalassemia-X-linked intellectual disability syndrome

Alström syndrome

Anauxetic dysplasia

Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

Argininosuccinic aciduria

Aromatic L-amino acid decarboxylase deficiency

Arthrogryposis-renal dysfunction-cholestasis syndrome

Ataxia with vitamin E deficiency

Ataxia-oculomotor apraxia type 1

Ataxia-telangiectasia

Atelosteogenesis type II

Autoimmune polyendocrinopathy type 1

Autosomal recessive cutis laxa type 1

Autosomal recessive dopa-responsive dystonia

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Autosomal recessive hypophosphatemic rickets

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive malignant osteopetrosis

Autosomal recessive multiple pterygium syndrome

Autosomal recessive polycystic kidney disease

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spondylocostal dysostosis

B4GALT1-CDG

Barth syndrome

Bifunctional enzyme deficiency

Biotinidase deficiency

Blomstrand lethal chondrodysplasia

Bloom syndrome

Brachytelephalangic chondrodysplasia punctata

Brittle cornea syndrome

CEDNIK syndrome

Carbamoyl-phosphate synthetase 1 deficiency

Cardiac-valvular Ehlers-Danlos syndrome

Carnitine palmitoyl transferase 1A deficiency

Carpenter syndrome

Cartilage-hair hypoplasia

Cataract-intellectual disability-hypogonadism syndrome

Cerebrotendinous xanthomatosis

Charcot-Marie-Tooth disease type 4E

Charcot-Marie-Tooth disease type 4H

Christianson syndrome

Chronic visceral acid sphingomyelinase deficiency

Chédiak-Higashi syndrome

Cohen syndrome

Combined oxidative phosphorylation defect type 2

Congenital amegakaryocytic thrombocytopenia

Congenital bile acid synthesis defect type 4

Congenital erythropoietic porphyria

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Congenital muscular dystrophy, Fukuyama type

Congenital nephrotic syndrome, Finnish type

Corneal dystrophy-perceptive deafness syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Corpus callosum agenesis-neuronopathy syndrome

Dejerine-Sottas syndrome

Desmosterolosis

Diastrophic dysplasia

Dihydropyrimidine dehydrogenase deficiency

Dilated cardiomyopathy with ataxia

Donnai-Barrow syndrome

Duchenne muscular dystrophy

Dysequilibrium syndrome

Dyskeratosis congenita

Dyssegmental dysplasia, Silverman-Handmaker type

Early infantile epileptic encephalopathy

Encephalopathy due to prosaposin deficiency

Enteric anendocrinosis

Epidermolysis bullosa simplex with muscular dystrophy

Ethylmalonic encephalopathy

Fabry disease

Familial Mediterranean fever

Familial dysautonomia

Familial isolated dilated cardiomyopathy

Fatal infantile cytochrome C oxidase deficiency

Fatal infantile lactic acidosis with methylmalonic aciduria

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Fetal akinesia deformation sequence

GM3 synthase deficiency

GRACILE syndrome

Geleophysic dysplasia

Generalized arterial calcification of infancy

Glutaryl-CoA dehydrogenase deficiency

Glycogen storage disease due to glycogen debranching enzyme deficiency

Greenberg dysplasia

HJV or HAMP-related hemochromatosis

Harlequin ichthyosis

Hemolytic anemia due to red cell pyruvate kinase deficiency

Hepatic veno-occlusive disease-immunodeficiency syndrome

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Hereditary fructose intolerance

Hereditary sensory and autonomic neuropathy type 4

Homocystinuria due to cystathionine beta-synthase deficiency

Hydrocephalus with stenosis of the aqueduct of Sylvius

Hyperammonemia due to N-acetylglutamate synthase deficiency

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Hypocalcemic vitamin D-dependent rickets

Hypocalcemic vitamin D-resistant rickets

Hypohidrotic ectodermal dysplasia with immunodeficiency

Hypomyelination-congenital cataract syndrome

Hypoplasminogenemia

Hypotonia with lactic acidemia and hyperammonemia

ICF syndrome

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Infant acute respiratory distress syndrome

Infantile neuroaxonal dystrophy

Infantile neurovisceral acid sphingomyelinase deficiency

Infantile osteopetrosis with neuroaxonal dysplasia

Infantile systemic hyalinosis

Infantile-onset X-linked spinal muscular atrophy

Infantile-onset spinocerebellar ataxia

Intermediate generalized junctional epidermolysis bullosa

Isolated complex III deficiency

Isolated thyroid-stimulating hormone deficiency

Isovaleric acidemia

Johanson-Blizzard syndrome

Joubert syndrome

Joubert syndrome with ocular defect

Joubert syndrome with oculorenal defect

Joubert syndrome with renal defect

Junctional epidermolysis bullosa with pyloric atresia

Juvenile Paget disease

Juvenile amyotrophic lateral sclerosis

Juvenile hyaline fibromatosis

Juvenile primary lateral sclerosis

Lafora disease

Lamellar ichthyosis

Laminin subunit alpha 2-related congenital muscular dystrophy

Laryngo-onycho-cutaneous syndrome

Lethal acantholytic erosive disorder

Lethal ataxia with deafness and optic atrophy

Lethal congenital contracture syndrome type 1

Lethal congenital contracture syndrome type 2

Lethal multiple pterygium syndrome

Lethal osteosclerotic bone dysplasia

Lissencephaly syndrome, Norman-Roberts type

Lissencephaly type 1 due to doublecortin gene mutation

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Marinesco-Sjögren syndrome

Matthew-Wood syndrome

Meckel syndrome

Medium chain acyl-CoA dehydrogenase deficiency

Megalencephalic leukoencephalopathy with subcortical cysts

Menkes disease

Mevalonic aciduria

Micro syndrome

Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Mitochondrial DNA depletion syndrome, myopathic form

Mitochondrial trifunctional protein deficiency

Mucolipidosis type II

Mucolipidosis type IV

Mucopolysaccharidosis type 7

Mulibrey nanism

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Navajo neurohepatopathy

Neonatal acute respiratory distress due to SP-B deficiency

Neonatal ichthyosis-sclerosing cholangitis syndrome

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

Neuroectodermal melanolysosomal disease

Nijmegen breakage syndrome

Non-acquired panhypopituitarism

Norrie disease

Oculocerebrorenal syndrome of Lowe

Odonto-onycho-dermal dysplasia

Omenn syndrome

Opitz GBBB syndrome

Ornithine transcarbamylase deficiency

Osteogenesis imperfecta type 2

Osteogenesis imperfecta type 3

Osteogenesis imperfecta type 4

Osteopetrosis with renal tubular acidosis

PMM2-CDG

Peroxisomal acyl-CoA oxidase deficiency

Phocomelia, Schinzel type

Pierson syndrome

Pontocerebellar hypoplasia type 2

Pontocerebellar hypoplasia type 4

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

Progressive epilepsy-intellectual disability syndrome, Finnish type

Progressive myoclonic epilepsy type 1

Properdin deficiency

Pycnodysostosis

Pyridoxal phosphate-responsive seizures

Pyruvate dehydrogenase E1-alpha deficiency

Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Renal-hepatic-pancreatic dysplasia

Restrictive dermopathy

Rett syndrome

Roberts syndrome

SLC35A1-CDG

Sanjad-Sakati syndrome

Schneckenbecken dysplasia

Seckel syndrome

Senior-Loken syndrome

Severe combined immunodeficiency due to FOXN1 deficiency

Severe combined immunodeficiency due to adenosine deaminase deficiency

Severe combined immunodeficiency due to complete RAG1/2 deficiency

Severe congenital nemaline myopathy

Severe generalized junctional epidermolysis bullosa

Severe neonatal-onset encephalopathy with microcephaly

Shwachman-Diamond syndrome

Sialidosis type 1

Sickle cell anemia

Sjögren-Larsson syndrome

Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Smith-Lemli-Opitz syndrome

Spastic paraplegia type 2

Spinal muscular atrophy with respiratory distress type 1

Stüve-Wiedemann syndrome

Succinic semialdehyde dehydrogenase deficiency

Sudden infant death-dysgenesis of the testes syndrome

T-B+ severe combined immunodeficiency due to JAK3 deficiency

T-B+ severe combined immunodeficiency due to gamma chain deficiency

Tetraamelia-multiple malformations syndrome

Triple A syndrome

Tyrosinemia type 1

Very long chain acyl-CoA dehydrogenase deficiency

Waardenburg-Shah syndrome

Walker-Warburg syndrome

Wilson disease

Wiskott-Aldrich syndrome

Wolcott-Rallison syndrome

X-linked agammaglobulinemia

X-linked centronuclear myopathy

X-linked complicated corpus callosum dysgenesis

X-linked creatine transporter deficiency

X-linked hyper-IgM syndrome

X-linked hypohidrotic ectodermal dysplasia

X-linked lissencephaly with abnormal genitalia

X-linked lymphoproliferative disease

Xeroderma pigmentosum

Additional information

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