Microarray Analysis for all Microdeletion/Microduplication Syndromes
Including (but not limited to..)
- 1p36
- 2p16
- 2q31.1
- 3q29
- 9q22.3
- 9q34.3
- 11q31.1
- 15q24
- 16p11.2
- 16p13.3
- 17p13.3
- 17q21
- Angleman Syndrome
- Cri Du Chat Syndrome
- Di George Syndrome
- DiGeorge region 2 (10p15)
- Kallmann Syndrome
- Langer-Giedion Syndrome
- MECP2 duplication
- Miller Dieker Syndrome
- NF1
- Phelan-McDermid
- Prader-Willi Syndrome
- Retinoblastoma Syndrome
- Rubinstein-Taybi Syndrome
- Saethre-Chotzen Syndrome
- Smith Magenis Syndrome
- Sotos Syndrome
- SRY
- Steroid Sulfatase
- WAGR
- Williams Syndrome
- Wolf –Hirschhorn Syndrome
Karyotyping
- Chromosome analysis (G-band)
- Chromosome Painting (FISH)
- Centromere Probes (FISH)
- Telomere Probes (FISH)
FISH Probes
- Dual fusion, break-apart and enumeration probes for various haematological conditions (for example BCR/ABL, KTM2A etc)
Please consult the laboratory on 0131 537 (3)2998
Note: FISH probes may be used past their recommended use before date, but will be fully verified before use.
QF-PCR
- Rapid Trisomy
- Y microdeletions
