Product Name

Application

Region

P018-SHOX CE

Idiopathic growth retardation

SHOX-Xp22

P033-CMT1 CE

Charcot-Marie Tooth disease (CMT1), Hereditary Neuropathy with liability to Pressure Palsies (HNPP)

CMT1/HNPP region, 17p12

P034-DMD-1 CE

Duchenne Muscular Dystrophy (DMD)

DMD, Xp21.2

P035-DMD-2 CE

Duchenne Muscular Dystrophy (DMD)

DMD, Xp21.2

P036-Subtelomeres Mix 1 CE

Subtelomeric testing

All subtelomeres

P055-PAHCE

Phenylketonuria

PAH 12q23.2

P060-SMACE

Spinal Muscular Atrophy (SMA)

SMN1, SMN2, 5q13

P070-Subtelomeres Mix 2BCE

Subtelomeric testing

All subtelomeres

P091-CFTR CE

Cystic Fibrosis

CFTR 7q31.2

P095-Aneuploidy CE

Down syndrome, Edwards syndrome, Patau syndrome

Chr. 13, 18, 21, X, Y

P140-HBA CE

Thalassemias, Alpha

HBA 16p

P250-DiGeorge CE

DiGeorge syndrome

22q11

P405-CMT1 CE

Charcot Marie Tooth Disease

CMT/HNPP region at 17p12