Paediatric Laboratory Medicine

Molecular Genetics Laboratory: Test services available

A	22q11 Deletion Syndrome new! Achondroplasia Angelman Syndrome (AS) new! Apert Syndrome (Now under Craniosynostosis Molecular Analysis) Arrhythmogenic Right Ventricular Cardiomyopathy new! Ashkenazi Jewish Screening Panel [includes: Bloom, Canavan, Tay-Sachs, Familial Dysautonomia, Fanconi Anemia, Mucolipidosis IV & Niemann-Pick]
B	Becker Muscular Dystrophy Beckwith-Wiedemann Syndrome (BWS) Bloom Syndrome (Now under Ashkenazi Jewish Screening Panel) Bone Marrow Transplant Testing (BMT) Branchio-Oto-Renal Syndrome (Now under Hearing Loss)
C	Canavan Disease (CVN) (Now under Ashkenazi Jewish Screening Panel) Cherubism Congenital Muscular Dystrophy (CMD) [includes: Fukuyama MD, Muscle-Eye-Brain Disease & Walker-Warburg Syndrome] new! Craniosynostosis Molecular Analysis [includes: Apert Syndrome, Non-syndromic Craniosynostosis, Crouzon Syndrome, Pfeiffer Syndrome, Saethre-Chotzen Syndrome] Crouzon Syndrome (Now under Craniosynostosis Molecular Analysis) Custom Diagnostics Cystic Fibrosis (CF)
D	DNA Banking - No information currently available. Dopamine Beta-Hydroxylase Deficiency Duchenne Muscular Dystrophy Back to TOP
F	Fabry Disease Familial Dysautonomia (FD) (Now under Ashkenazi Jewish Screening Panel) Fanconi Anemia Group C (Now under Ashkenazi Jewish Screening Panel) Focal Segmental Glomerulosclerosis new! Fragile X Syndrome FRAXE Fukuyama Muscular Dystrophy (Now under Congenital Muscular Dystrophy)
G	Gaucher Disease (GD)
H	Hearing Loss Branchio-Oto-Renal Syndrome Mitochondrial Deafness Non-syndromic (Connexin 26 & 30) Pendred Syndrome Hereditary Hemorrhagic Telangiectasia (HHT) Hunter Disease Back to TOP
I	Identity Testing [includes: Maternal Cell Contamination Studies,Tissue Matching, Y-specific Marker (Fetal Sexing), Zygosity Testing]
L	Li-Fraumeni Syndrome new!
M	Mitochondrial Deafness (Now under Hearing Loss) Mucolipidosis IV (Now under Ashkenazi Jewish Screening Panel) Muscle-Eye-Brain Disease(Now under Congenital Muscular Dystrophy) mRNA Analysis new!
N	Neuronal Ceroid Lipofuscinoses (NCLs, Batten Disease) new! Niemann-Pick Disease (type A & B) (Now under Ashkenazi Jewish Screening Panel) Non-syndromic Craniosynostosis (Now under Craniosynostosis Molecular Analysis) Non-syndromic Hearing Loss (Connexin 26 & 30) (Now under Hearing Loss)
O	Orphan Disease (Now under Custom Diagnostics) Back to TOP
P	Pendred Syndrome (Now under Hearing Loss) Pfeiffer Syndrome (Now under Craniosynostosis Molecular Analysis) Prader-Willi Syndrome (PWS) new!
R	Retinoblastoma (RB)
S	Saethre-Chotzen Syndrome (Now under Craniosynostosis Molecular Analysis) Simpson-Golabi-Behmel Syndrome (SGB) Shwachman-Diamond Syndrome (SDS) Spinal and Bulbar Muscular Atrophy (SBMA) Spinal Muscular Atrophy (SMA type 1, 2 & 3)
T	Tay-Sachs Disease (TSD) (Now under Ashkenazi Jewish Screening Panel) Thanatophoric Dysplasia (TD type I & II) Trismus-Pseudocamptodactyly Syndrome
W	Walker-Warburg Syndrome (Now under Congenital Muscular Dystrophy)
X	X Chromosome Inactivation
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