Startpage Heidelberg University Hospital
Startpage Heidelberg University Hospital 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

Please note that the applicable regulations for the transport of hazardous substances and objects must be complied with when sending samples:

  • Law on the Transport of Dangerous Goods (GGBefG),
  • "Dangerous Goods Ordinance for Road, Rail and Inland Navigation" (GGVSEB)
  • "European Agreement concerning the International Carriage of Dangerous Goods by Road" (ADR)

In order to protect employees from potentially infectious material (e.g. blood), shipments should be made in secondary packaging with absorbent material in suitable outer packaging (e.g. cardboard boxes or padded envelopes), which are classified according to UN3373 (external).

Interfering factors that are known to significantly impair the analytical performance of the analysis or the evaluation of the results:

  • Incorrect sample material (for the requested analysis)
  • Poor quality of the sample
  • Contamination of the test material by material from other persons
  • Missing or insufficient documentation on the request form
  • Missing signature of the doctor
  • Missing consent of the patient
  • Incorrect indication of family relationships
  • Incorrect information on stem cell transplantation
  • Sample mix-ups
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.

EN