• Microsatellit Instability (MSI)

- BAT25, BAT26, Mono27, NR21, NR24
- Herediter Nonpolipozis Colorectal Cancer (HNPCC)

• Friedreich's Ataxia

- FXN (GAA repeat)
- FXN (deletion&duplication)

• Huntington Disease

- HD (CAG and CGG repeat)

• Distonia (DYT1)

- TOR1A1 (GAG deletion) (exon 5)

• Cardiofaciocutaneous Syndrome

- BRAF (exon 6, 11-16)

• Smith-Lemli-Opitz Syndrome

- DHCR7 (exon 8 and 9)

• Alzheimer Disease

- APP (G534A and C369G mutations + deletion&duplication)
- GAB2 (deletion&duplication)
- MET(deletion&duplication)

• Parkinson Disease

- PARK1 (SNCA) (deletion&duplication)
- PARK2 (Parkin) (deletion&duplication)
- PARK5 (UCHL1) (deletion&duplication)
- PARK6 (PINK1) (deletion&duplication)
- PARK7 (DJ1) (deletion&duplication)
- PARK8 (LRRK2) (G2019S mutation and deletion&duplication)
- ATP13A2 (deletion&duplication)

• Ataxia (recessive)

- SETX (deletion&duplication)
- APTX (deletion&duplication)
- FXN (deletion&duplication)

• Frontotemporal Dementia

- MAPT (deletion&duplication)
- GRN (Progranuline) (deletion&duplication)
- CRHR1 (deletion&duplication)

• Cardiovascular Risk Panel (CVD)

- Factor II (prothrombin) mutation analysis (G20210A)
- Factor Vmutation analysis (G1691A and H1299R)
- MTHFR mutation analysis (C677T and A1298C)
- Faktör XIII mutation analysis (V34L)
- β-Fibrinogen mutation analysisi (-455 G-A)
- PAI-1 mutation analysis (4G/5G)
- HPA-1 mutation analysis (a/b)
- ACE mutation analysis (I/D)
- ApoB (R3500Q)
- ApoE (e2, e3 and e3 alleles)

• ACTN3 (sports performance)

- R577X mutation analysis

• Rett Syndrome

- MECP2 (deletion and duplication)
- CDKL5 (deletion and duplication)
- ARX (deletion and duplication)
- NTNG1 (deletion and duplication)

• Alpha Thalassemia

- HBA1 and HBA2 (deletion and duplication)

• Charcot-Marie-Tooth Disease
  

- CMT1/HNPP (deletion and duplication)

• Mitochondrial DNA (deletion and duplication)