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 Dystrophies LGMD LGMD2L | 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 SMA NGHR | 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 DOWN EDWARDS PATAU | 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 | Aarskog-Scott 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 |