| 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 |