Institute of Human Genetics
Institute of Human Genetics
Institute of Human… For Physicians Directory of…

Directory of Services


A|B|C|D|E|F|G|H|I|J|K|L|M|N|O|P|Q|R|S|T|U|V|W|X|Y|Z
A
Adrenogenital syndrome (21-hydroxylase deficiency, AGS)
Acute Lymphoblastic Leukemia (ALL) **
Acute Myeloid Leukemia (AML) **
AL Amyloidoses
Amyloidoses (hereditary)
Angelman syndrome
Aniridia
Aromatic L-amino acid decarboxylase deficiency *
Array analysis
Azoospermia **
B
B- and T-cell Clonality *
Becker muscular dystrophy (BMD) **
Breast and ovarian cancer (hereditary)
C
CBAVD
Chromosome analysis, cancer
Chromosome analysis, postnatal
Chromosome analysis, prenatal
Chronic Lymphocytic Leukemia (CLL)
Chronic Myeloid Leukemia (CML) **
Cystic fibrosis (mucoviscidosis)
D
Di-George syndrome (DGS 1)/Velocardiofacial syndrome (VCFS 1)
Dihydropteridine reductase deficiency *
DNA asservation
E
Exome sequencing *
F
Fabry disease *
Fibroblast culture
Fragile X syndrome (Martin-Bell syndrome)
G
Glutaric aciduria type I
GTP cyclohydrolase 1 deficiency *
H
Homocystinuria *
Huntington's disease
I
Ichtyosis (X-linked)
K
Kallmann syndrome
L
LCHAD deficiency *
Leri-Weill syndrome *
Lynch syndrome (HNPCC) *
M
Marker chromosomes
MCAD deficiency
Methylmalonic aciduria *
3-methylglutaconaciduria type 1 *

Microdeletion 22q11
Mild hyperphanylalaninemia, non BH4-deficient (HPANBH4)
Miller-Dieker syndrome
Miscarriages
Mosaicism
Multiple endocrine neoplasia type 1 *
Multiple endocrine neoplasia type 2 *
Multiple Myeloma (MM)
Muscular dystrophy, Becker type (BMD)
Muscular dystrophy, Duchenne type (DMD)
Myelodysplastic syndrome (MDS)
Myeloproliferative disorders (MPS) **
N
Neurofibromatosis type I (NF1)
Non-Hodgkin Lymphoma (NHL)
O
Oligozoospermia *
Ornithine transcarbamylase deficiency
Osler-Rendu-Weber syndrome *
P
Pelizaeus-Merzbacher disease *
Phenylketonuria/Hyperphenylalaninemia
Polyposis, MUTYH-associated (MAP)
Polyposis, Familial Adenomatous (FAP)
Prader-Willi syndrome
Pulmonary arterial hypertension
Pulmonary veno-occlusive disease
6-Pyruvoyl tetrahydropterin deficiency *
R
Recurrent miscarriages
Retinoblastoma *
Rett syndrome
Rubinstein-Taybi syndrome *
S
Sepiapterin reductase deficiency *
Short stature (idiopathic)
SHOX Gene Deletion Diagnostics *
Smith-Lemli-Optiz syndrome
Smith-Magenis syndrome
Spinal Muscular Atrophy
T
Tuberous sclerosis
Tyrosine hydroxylase deficiency *
U
Uniparental disomy
W
WAGR syndrome *
Williams-Beuren syndrome
Wolf-Hirschhorn syndrome

 

*                non-accredited diagnostics
**              only the molecular genetic testing is not accredited

If you require certain laboratory diagnostic services that are not listed here, please consult the Human Genetic Quality Network (HGQN) for other providers.

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