NGS Agenesis of the Corpus callosum

Agenesis of the Corpus callosum (CCA)

Associated medical conditions:
Proud Syndrome
Non-ketonic hyperglycemia
Chudley-McCullough Syndrome
Kallmann syndrome
X-linked hydrocephalus
MASA syndrome
Pyruvate dehydrogenase deficiency
Warburg Micro Syndrome
TARP syndrome
Anderman Syndrome
Spastic Paraplegia type 11
Mowat Wilson Syndrome

CCA Panel (44 genes)
AKT3, ARID1A, ARID1B, ARX, B3GALTL, C12orf57, CDK5RAP2, DISC1, DYNC1H1, EOMES, EPG5, FOXG1, GCSH, GLDC, GPSM2, HCCS, KAL1, KIF7, L1CAM, LRP2, MED12, MID1, NDE1, NFIA, OFD1, OPHN1, PAX6, PDHB, PTCH1, RAB3GAP1, RAB3GAP2, RBM10, SLC12A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SPG11, TUBA1A, TUBB1, TUBB2B, TUBB3, UPF3B, VAX1, ZEB2.



  • How to order
    Order Form

    Place your order by email molekulargenetik@praenatal-medizin.de

  • Turnaround time
    2-3 weeks

  • Contact
    Priv.-Doz. Dr. med. M. Shoukier
    Dr. rer. nat. C. Bagowski molekulargenetik@praenatal-medizin.de

    Phone: +49 89 130744-0
    Fax: +49 89 130744-99

  • Ship the sample to our laboratory
    Material: DNA, Blood, Dried blood spot, Buccal swab, Chorionic villi (CVS), Amniotic fluid

    Shipping address:
    Pränatal-Medizin München
    Lachnerstr. 20
    80639 München
    Germany


  • Order specimen kit with sample tube, requisition form and prepaid return envelope by email.