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  Test Code Suspected Diagnosis Probe Target Gene(s)/Unique Sequence
  0040208 Aneuploidy, common 13/18/21/X/Y  
Microdeletion Syndromes
  2002299 (Order this test and specify probes) 4p- 4p16.3 WHSC1
    5p- 5p15.2 D5S23-D5S721
    15q11.2-13 duplication 15q11.2-13 D15S11, D15S10
    22qter deletion 22q13.3 22qtel (SHANK3)
    Angelman syndrome 15q11.2-13 D15S10
    Cri-du-chat syndrome 5p15.2 D5S23-D5S721
    DiGeorge syndrome 22q11.2 TUPLE-1 (HIRA)
    Kallmann syndrome Xp22.3 KAL1
    Male detection (SRY) Yp11.3 SRY
    Miller-Dieker syndrome (lissencephaly) 17p13.3 LIS1
    Phelan-McDermid syndrome 22q13.3 22qtel (SHANK3)
    Prader-Willi syndrome 15q11.2-13 D15S10
    SHOX Xp22.3 SHOX
    Smith-Magenis syndrome 17p11.2 SHMT1, TOP3, FL11, LLGL1
    SRY Yp11.3 SRY
    Steroid sulfatase deficiency (STS, X-linked ichthyosis) Xp22.3 STS
    Velocardiofacial (VCF) syndrome 22q11.2 TUPLE-1 (HIRA)
    Williams syndrome (elastin) 7q11.23 ELN, LIMK1, D7S613
    Wolf-Hirschhorn syndrome 4p16.3 WHSC1
Miscellaneous (Please contact the lab prior to ordering)
  2002299 or 2002298 (Order one of these tests and specify probes) Acrocentric p-arm   NOR regions of all acrocentric chromosomes
    X centromere Xcen DXZ1
    X inactivation locus Xq13 XIST
    Y centromere Ycen DYZ3
    Male detection (SRY) Yp11.3 SRY
    Yq12 Yq12 DYZ1-YsatIII