Testing options
| Trisomies | Sex Chromosome Aneuploidies | Deletion/Duplication Syndromes | Gender Identification |
|---|
| Down syndrome | Turner syndrome | 60 microdeletions and duplications* | Male / female |
| Edwards syndrome | Klinefelter syndrome | | |
| Patau syndrome | XXX | | |
| 22 | XYY | | |
| 16 | | | |
| 9 | | | |
*Detectable deletions and duplications
1q41-q42 microdeletion Syndrome
11q11-q13.3 duplication Syndrome
12q14 microdeletion Syndrome
14q11-q22 deletion Syndrome
15q26 overgrowth Syndrome
16p11.2-p12.2 microdeletion Syndrome
16p11.2-p12.2 microduplication Syndrome
17q21.31 deletion Syndrome
17q21.31 duplication Syndrome
1p36 microdeletion Syndrome
2q33.1 deletion Syndrome/Glass syndrome
5q21.1-q31.2 deletion Syndrome
8p23.1 deletion Syndrome
8p23.1 duplication Syndrome
Agelman Syndrome/Prader-Willi syndrome
Alpha Thalassemia, Mental Retardation Syndrome
Androgen insensitivity Syndrome (AIS)
Aniridia II & WAGR Syndrome
Bannayan-Riley-Ruvalcaba Syndrome (BRRS)
Branchlootorenal dysplasia Syndrome (BOR)/ Melnick -Frazer Syndrome
Cat-eye Syndrome (CES)
Microphthalmia Syndrome 6 type, pituitary hypoplasia
Microphthalmia with linear skin deffects
Monosomy 9p Syndrome
Orofaciodigital Syndrome
Panhypopituitarism, X-linked
Potocki-Lupski Syndrome (17p11.2 duplication Syndrome)
Prader-Willi-like Syndrome (SIM1 Syndrome)
Rieger Syndrome 1 type (RIEG1)
Saethre-Chotzen Syndrome (SCS)
Sensorineural deafness and male infertility
Smith-Magenis Syndrome
Split-Hand / Foot Malformation 5 type (SHFM5)
Split-hand/foot malformation 3 type (SHFM3)
Syndrome Diaphragmatic hernia, congenital (HCD/DIH1)
Trichorhinophalangeal Syndrome1 type (TRPS1)
Van der Woude Syndrome (VWS)
Wilms tumour 1 (WT1)
X-linked lymphoproliferative Syndrome (XLP)
Xp11.22-p11.23 microduplication Syndrome
Chromosome 10q deletion Syndrome
Chromosome 10q22.3-q23.31 microdeletion Syndrome
Chromosome 18p deletion Syndrome
Chromosome 18q deletion Syndrome
Cornelia de Lange Syndrome (CDLS)
Cowden Syndrome (CD)
Cri du Chat (5p deletion) Syndrome
Dandy-Walker Syndrome (DWS)
DiGeorge Syndrome2 type (DGS2)
Distal arthrogryposis 2B type (DA2B)
Duchenne muscular dystrophy (DMD);Duchenne / Becker mascular dystrophy (DMD/BMD)
Dyggve-Melchior-Clausen Syndrome (DMC)
Feingold Syndrome
Holoprosencephaly 1 type (HPE1)
Holoprosencephaly 4 type (HPE4)
Holoprosencephaly 6 type (HPE6)
Jacobsen Syndrome
Langer-Giedion Syndrome (LGS)
Leukodystrophy with 11q14.2-q14.3
Mental retardation X-linked growth horm. Def (MRGH)