Chromosome Analysis

Classical chromosome analysis is a central tool in postnatal diagnostics and one of the fundamental investigations in genetic analysis. It involves the examination of cultured peripheral blood lymphocytes and serves to clarify genetically determined diseases and developmental disorders.

Request Test

  • Sample material: 3ml heparinized whole blood
  • Examination method: Karyotyping
  • Turnaround time: from 2 weeks
  • Required documents:

Detailed information on sample submission can be found here.

INDICATIONS

Reproductive genetics

  • Couples with unfulfilled desire to have children before IVF or ICSI: Chromosome analyses can help identify genetic causes of infertility and minimize the risk of genetically determined problems for offspring.
Detailed information on genetic diagnostics for couples with unfulfilled desire to have children can be found here: Fertility Analyses

Postnatal Diagnostics

  • Newborns with congenital malformations: For newborns born with structural anomalies or multiple malformations, chromosome analysis can identify genetic causes.
  • Children with developmental delays or intellectual disability: In children with delayed motor or intellectual development, chromosome analysis can help identify genetic factors causing these developmental disorders.
  • Children with behavioral abnormalities: Chromosome analyses are also indicated in children with significant behavioral abnormalities to determine underlying genetic causes.
  • Relatives of individuals with structural chromosomal anomalies: An analysis may also be useful for relatives of individuals with known structural chromosomal anomalies.
  • Men with small testes and/or gynecomastia: In men exhibiting small testes or gynecomastia, chromosome analysis can provide insight into underlying genetic anomalies.
  • Newborns with hypospadias or intersex genitalia: The examination can help clarify the cause of atypical genitalia.
  • Suspected chromosomal syndrome: In cases of clinical suspicion of chromosomal syndromes such as Down, Cri-du-Chat, or Prader-Willi syndrome, chromosome analysis can confirm the diagnosis and support further medical care.
  • Children with growth disorders: In children with significant growth disorders, whether short stature or above-average growth, chromosome analysis can uncover genetic causes affecting growth.
  • Children with abnormal sexual characteristics: In children with unclear or ambiguous sexual characteristics, chromosome analysis is essential to diagnose chromosomal sex anomalies and ensure appropriate medical care.

DIAGNOSTICS

Classical chromosome analysis begins with the collection of a blood sample. The lymphocytes contained in the sample are cultured to obtain a sufficient cell count. Subsequently, the chromosomes are prepared and stained by G-banding, making specific banding patterns visible that allow for the identification of numerical and structural aberrations.

Array-Comparative Genomic Hybridization (Array-CGH) is used to identify the smallest chromosomal changes not visible with conventional methods. This enables the detection of submicroscopic deletions and duplications associated with numerous genetic syndromes. See Array Analysis for more information.

EVALUATION

The result of karyotyping is presented using ISCN (International System for Human Cytogenetic Nomenclature). This is a standardized system for describing and classifying chromosomal anomalies and chromosome findings. The ISCN enables a uniform and precise representation of karyotypes.

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