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Chromosome instability syndromes

Neurogenetics

Test Code: CISNGS

Genes: (0 genes)

Sample Type: Blood

Method:

Turnaround Time:

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1800

Description:
Ataxia telangiectasia
Bloom syndrome
Cornelia de Lange syndrome
Fanconi anaemia
ICF (immunodeficiency, centromeric instability, facial anomalies) syndrome
Mosaic variegated aneuploidy
Nijmegen syndrome
Roberts Syndrome
Seckel syndrome
ATM, ATR, BRD4, BUB1B, CDCA7, CENATAC, CENPJ, CEP152, CEP295, CEP57, CEP63, DNA2, DNMT3B, ESCO2, FANC genes, HDAC8, NIN, NIPBL, NSB1 (NBN), NSMCE2, RAD21, RBBP8, RECQL3 (BLM), SMC1A, SMC3, TRAIP, TRIP13, ZBTB24