Test code Test name Price birr Method Specimen Spec. Vol Temp. Frequency Reported Remarks
PP001 Neurogenetics and Mental Retardation 3087 MLPA WB-EDTA or Buccal swab + Clinical History   3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP002 Charcot-Marie Tooth disease 2550 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP003 Duchenne Muscular Dystrophy DMD 2720 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP003 Muscular Dystrophy 3085 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP004 Hearing Loss 3200 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP005 Ataxia 3035 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP006 Leiri Weill Dyschondrosteosis LWD 3575 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP007 Spinal Muscular Atrophy SMA 2550 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP008 Aneuploidy 2550 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP009 Microdeletion Syndromes 3230 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP010 Prader Willi & Angelman Syndrome PW&AS 3230 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP011 Transient Neonatal Diabetes mellitus (TNDM) 3230 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP012 Thyroid dysgenesis 2550 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP013 Limb malformation 2550 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP014 Heterotaxy 2550 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP015 Idiopathic growth retardation 2550 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP016 Noonan Syndrome 2858 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP017 Araskog Syndrome 2550 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
PP018 Rett Syndrome 2550 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A