MRC-ET

MRC-ET Advanced Molecular Diagnostics.

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MRC-ET

MRC-ET Advanced Molecular Diagnostics.

Prenatal and Postnatal

Test code Test name Method Specimen Spec. Vol Temp. Frequency Reported Remarks
PP001 Neurogenetics and Mental Retardation MLPA WB-EDTA or Buccal swab + Clinical History   3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP002 Charcot-Marie Tooth disease MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP003 Duchenne Muscular Dystrophy DMD MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP003 Muscular Dystrophies
LGMD
LGMD2L 		MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP004 Hearing Loss MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP005 Ataxia MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP006 Leiri Weill Dyschondrosteosis LWD MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP007 Spinal Muscular Atrophy SMA
SMA NGHR		 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP008 Aneuploidy
DOWN
EDWARDS
PATAU 		MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP009 Microdeletion Syndromes MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP010 Prader Willi & Angelman Syndrome PW&AS MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP011 Transient Neonatal Diabetes mellitus (TNDM) MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP012 Thyroid dysgenesis MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP013 Limb malformation MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP014 Heterotaxy MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP015 Idiopathic growth retardation MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP016 Noonan Syndrome MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP017 Aarskog-Scott Syndrome MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A
PP018 Rett Syndrome MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 2-3 weeks A