Molecular pathology procedure, Level 9 (eg, analysis of >50 exons in a single gene by DNA sequence analysis)
ABCA4 (ATP-binding cassette, sub-family A [ABC1], member 4) (eg, Stargardt disease, age-related macular degeneration), full gene sequence
ATM (ataxia telangiectasia mutated) (eg, ataxia telangiectasia), full gene sequence
CDH23 (cadherin-related 23) (eg, Usher syndrome, type 1), full gene sequence
CEP290 (centrosomal protein 290kDa) (eg, Joubert syndrome), full gene sequence
COL1A1 (collagen, type I, alpha 1) (eg, osteogenesis imperfecta, type I), full gene sequence
COL1A2 (collagen, type I, alpha 2) (eg, osteogenesis imperfecta, type I), full gene sequence
COL4A1 (collagen, type IV, alpha 1) (eg, brain small-vessel disease with hemorrhage), full gene sequence
COL4A3 (collagen, type IV, alpha 3 [Goodpasture antigen]) (eg, Alport syndrome), full gene sequence
COL4A5 (collagen, type IV, alpha 5) (eg, Alport syndrome), full gene sequence
DMD (dystrophin) (eg, Duchenne/Becker muscular dystrophy), full gene sequence
DYSF (dysferlin, limb girdle muscular dystrophy 2B [autosomal recessive]) (eg, limb-girdle muscular dystrophy), full gene sequence
FBN1 (fibrillin 1) (eg, Marfan syndrome), full gene sequence
ITPR1 (inositol 1,4,5-trisphosphate receptor, type 1) (eg, spinocerebellar ataxia), full gene sequence
LAMA2 (laminin, alpha 2) (eg, congenital muscular dystrophy), full gene sequence
LRRK2 (leucine-rich repeat kinase 2) (eg, Parkinson disease), full gene sequence
MYH11 (myosin, heavy chain 11, smooth muscle) (eg, thoracic aortic aneurysms and aortic dissections), full gene sequence
NEB (nebulin) (eg, nemaline myopathy 2), full gene sequence
NF1 (neurofibromin 1) (eg, neurofibromatosis, type 1), full gene sequence
PKHD1 (polycystic kidney and hepatic disease 1) (eg, autosomal recessive polycystic kidney disease), full gene sequence
RYR1 (ryanodine receptor 1, skeletal) (eg, malignant hyperthermia), full gene sequence
RYR2 (ryanodine receptor 2 [cardiac]) (eg, catecholaminergic polymorphic ventricular tachycardia, arrhythmogenic right ventricular dysplasia), full gene sequence or targeted sequence analysis of > 50 exons
USH2A (Usher syndrome 2A [autosomal recessive, mild]) (eg, Usher syndrome, type 2), full gene sequence
VPS13B (vacuolar protein sorting 13 homolog B [yeast]) (eg, Cohen syndrome), full gene sequence
VWF (von Willebrand factor) (eg, von Willebrand disease types 1 and 3), full gene sequence