The doctor may order any or all of the following tests to ascertain if a person has IBM2:

Blood test for serum Creatine Kinase (CK or CPK);
Nerve Conduction Study (NCS) / Electomyography (EMG);
Muscle Biopsy;
Magnetic Resonance Imaging (MRI) or Computer Tomography (CT) Scan to determine true sparing of quadriceps;
Blood Test or Buccal swab for genetic testing;

Classification
Types of hereditary inclusion body myopathy:

IBM2 is the most common form, and is an autosomal recessive form, caused by mutations in the GNE gene; this form mainly affects leg muscles, but with an unusual distribution that spares the quadriceps. The incidence of this form is about 10 per million per year. There are two forms: a quadriceps sparing myopathy (autosomal recessive form of inclusion body myopathy) and Nonaka type distal myopathy (distal myopathy with rimmed vacuoles). While occurring worldside it is most common in Jews of Persian origin. The GNE gene ecodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. Disease occurs when both copies in the genome are non functional. The pathophysiology is still unclear. Cardiac involvement may occur. IBM3 is a sometimes autosomal dominant and sometimes autosomal recessive form caused by mutations in MYHC2A;  it is relatively mild muscle disorder.
Oculofaciocardiodental syndrome is a rare X-linked dominant genetic disorder. Presentation
The incidence of this condition is less than 1 per million. It is primarily only found in females. Its highly rare in males, but some males were born with it. Teeth with large roots (radiculomegaly), heart defects and small eyes (microphthalmia) are the characteristic triad found in this syndrome. Typical features of the condition include:
Face
Deep set eyes
Broad nasal tip divided by a cleft
Eyes
Microphthalmia (small eyes)
Early cataracts
Glaucoma
Teeth
Radiculomegaly (teeth with very large roots)
Delayed loss of primary teeth
Missing (oligodontia) or abnormally small teeth
Misaligned teeth
Defective tooth enamel
Heart defects
Atrial and/or ventricular defects
Mitral valve prolapse
Mild intellectual disability and conductive or sensorineural hearing loss may occur. Genetics
This condition is caused by lesions in the BCOR gene located on the short arm of the X chromosome (Xp11.4). This protein encodes the BCL6 corepressor, but little is currently known about its function. The inheritance is X-linked dominant.A genetically related disorder is Lenz microphthalmia syndrome. Diagnosis
Diagnosis can be confirmed through DNA testing. Treatment
History
The first features of this syndrome noted were the abnormal teeth, which were described by Hayward in 1980. == References ==