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See the Lab Guide's Explanation of Sample Requirements for key to sample codes. Ashkenazi Jewish
Carrier Screen  (Riley Day) Canavan Disease Tay Sachs Disease Fanconi Anaemia Cystic Fibrosis Screen (7 Jewish mutations) Bloom Syndrome Niemann Pick Disease Mucolipidosis IV Glycogen Storage Disease Optional addition at published price: Gaucher Disease ASHJ 9
A
CBAVD Profile
(Azoospermia)  Y Chromosome Microdeletion Cystic Fibrosis Carrier Screen (32 mutations) PolyT (5T, 7T, 9T) CAVD 9
A
A
H
Male Genetic
Reproductive Profile Y Chromosome Microdeletion Cystic Fibrosis Carrier Screen (32 mutations) GRP 9
A
A
H
Male Infertility Profile 2
Testosterone Inhibin B SHBG and FAI LH Prolactin Chromosome Analysis Y Chromosome Microdeletion (AZFa, b and c) Cystic Fibrosis (32 mutations) Semen analysis will be invoiced as an extra test. Please request if required. MIP2 9
A
A
B
B
B
H
Pre-Travel (DVT) Screen
Anticardiolipin Antibodies Factor II Prothrombin Mutation (G20210A) Factor V Leiden Mutation (G1691A) DVT1 9
A
A
B
Recurrent Miscarriage
Profile (Female) Antithrombin III Factor V Leiden gene Factor II Prothrombin gene MTHFR gene Fibrinogen ACT Protein C Resistance Lupus Anticoagulant Protein C Protein S Anticardiolipin Abs Chromosome Analysis Please request Partner’s Chromosome Analysis using a separate request form. A
A
B
B
C
C
H
Mental Retardation Profile
Panel by MLPA Chromosome Analysis MRP 9
A
H
Thrombotic Risk/
Miscarriage Profile  Antithrombin III Factor V Leiden gene Factor II Prothrombin gene MTHFR gene Fibrinogen ACT Protein C Resistance Lupus Anticoagulant Protein C Protein S Anticardiolipin Abs PROP 18
A
A
B
C
C
C
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