Research performed in the genetics department:

Price lists for tests carried out by the Department of Genetics:

Price list of the Cytogenetics Laboratory

Price list of the Metabolic Laboratory

Price list of the Laboratory of the Molecular Basis of Neurodegenerative Diseases

Head: dr hab. n. med. Małgorzata Bednarska-Makaruk

Tel. (22) 45 82 610

Fax. (22) 858 91 69

Headquarters (22) 45 82 800

DIAGNOSTIC AND PREVENTIVE ACTIVITIES OF THE DEPARTMENT OF GENETICS OF THE INSTITUTE OF PSYCHIATRY AND NEUROLOGY (IPiN)
OFFER NATIONWIDE

1) Lysosomal diseases

The IPiN Genetics Department is the only facility in Poland that performs a complete set of laboratory tests enabling the diagnosis of lysosomal diseases

2) Wilson's disease (hepatolenticular degeneration)
Diagnostics and therapy monitoring - determining the level of ceruloplasmin, copper and zinc in blood serum and daily urinary excretion of copper and zinc.

II Molecular diagnostics (DNA analysis) of diseases of the nervous system, neuromuscular diseases and others (preclinical tests, carrier tests).

Disease names:

Huntington's disease (chorea) (mainly in the Institute of National Remembrance).

Duchenne/Becker muscular dystrophy (prenatal tests only at the Institute of National Remembrance).

Spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease) (only in 2 national centers, including the Institute of National Remembrance).

Spinobulbar muscular atrophy (Kennedy's disease).

Spinocerebellar ataxia, formerly called olivopontocerebellar atrophy.

– genetic varieties: SCA1, SCA2, SCA3, SCA6, SCA8, SCA12, SCA17, DRPLA (dentatorubral-pallidoluysian atrophy) (only in the Institute of National Remembrance).

Myotonic dystrophy, types I and II.

Identification of the apolipoprotein E genotype, the E4 genotype is associated with the most common form of Alzheimer's disease (type II) and a predisposition to atherosclerosis.

Genetically determined hypercholesterolemia - diagnosis of Familial Apolipoprotein B100 Deficiency - FDB (DNA analysis).

III Cytogenetic diagnostics (detection of chromosomal aberrations, e.g. Down syndrome) (see also point IV)

karyotype determination in peripheral blood lymphocyte culture

karyotype determination in fibroblast culture

a wide range of diagnostic methods, including the molecular FISH method (available only in a few national centers). The FISH method allows, among others, for the detection of chromosomal microaberrations, such as 22q11.2 deletion in diGeorge syndrome; deletion of this region is also considered to be the cause of 2% of schizophrenia cases. Detection of subtelomeric deletions - one of the causes of mental retardation and dysmorphic syndromes.

determination of sex chromatin and karyotype testing in people with disorders of bodily and sexual development.

IV Prenatal tests (in cooperation with two Warsaw gynecological and obstetric clinics*). The Institute of National Remembrance's Genetics Department performs the most prenatal tests in the country.
Indications for prenatal tests are summarized in Table 2.

– procedures used – amniocentesis, trophoblast biopsy, cordocentesis.

Biochemical diagnostics (determination of alpha-fetoprotein level, detection of abnormal isoenzyme - cholinesterase (acetylcholinesterase) in amniotic fluid and ultrasound diagnosis of open neural tube defects.

Cytogenetic diagnostics (detection of fetal chromosomal aberrations), indications, see table. 2).

Tested material: amniotic fluid (amniocyte culture), umbilical cord blood (lymphocyte culture), trophoblast.

Diagnostics of metabolic diseases listed in point I and other genetically determined neurological diseases listed in point II.

Ultrasound diagnosis of developmental defects (two gynecological and obstetric clinics cooperating*).

V Genetic counseling (based on interview, clinical examination and diagnostic tests listed in points I-III).

pedigree analysis

clinical tests – neurological and others

determining genetic risk

qualification for prenatal diagnosis

Before visiting the Genetic Clinic, it is advisable to obtain a referral for a consultation (not for tests) from a family doctor, an obstetrician-gynecologist or another specialist from a local clinic.
Table 1. Lysosomal diseases diagnosed in the Genetic Clinic of the Institute of National Remembrance

Tabel 2. Indications for prenatal tests (amniocentesis, trophoblast biopsy or cordocentesis)

* Concerns chromosomal aberrations

Abbreviations used

DMD – Duchenne muscular dystrophy
BMD – Becker muscular dystrophy
SMA – spinal muscular atrophy
SBMA – spinal bulbar muscular atrophy
HD – Huntington's disease
SCA – spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA6, SCA12, SCA17)
DRPLA – atrophy of the dentate nucleus, red nucleus, globus pallidus and nucleus of Luys

Before visiting the Genetic Clinic, it is advisable to obtain a referral for a consultation (not for tests) from a family doctor, an obstetrician-gynecologist or another specialist from a local clinic.