Handling Tissues for Molecular Diagnosis

The Metabolic Program at CDRC is the only one of its kind in the state. It is one of a network of national and international centers that share information and experience. The program provides state-of-the-art diagnostic and management services for children with confirmed or suspected metabolic inborn errors. Efforts range from case finding through diagnosis, evaluation, management, genetic counseling and treatment. the program welcomes referrals at any age.

Handling Tissues for Molecular Diagnosis

Molecule	Type of Test	Example	Requirements
Protein	Immunohistochemistry	Infections (CMV, parovirus)	Fixed; Frozen in OCT
		Myopathy (typing, dystrophin)
		Neoplasms
	Electrophoresis	Thalassemia	Frozen; refridg. blood
	Western blot	HIV testing	Frozen; refridg. blood
	ELISA/RIA	TORCH seratology	Frozen; refridg. blood
	HPLC	Amino acid metabolic defect	Frozen; refridg. blood
	GC/MS	Smith-Lemli-Opitz syndrome	Frozen; refridg. blood
	Enzyme assay	Glycogen storage disease	Frozen; refridg. blood
	Protein processing	Osteogenesis imperfecta	Culture
DNA	Southern blot	Specific genes	Frozen; culture
	PCR	Specific mutations	Frozen; culture
		(CF, MEN 2B)
	FISH	Aneuploidy	Culture,
		Deletion (VCFS)	touch prep
	Cytogenetics	Aneuploidy	Culture
		(Confined placental mosaicism)
	+ breakage study	Fanconi
	+ puffing assay	Roberts
	Flow cytometry	Triploidy/tetraploidy	Fresh; fixed
	Comp. Genome Hybridization	Deletions, amplifications	Frozen
RNA	RT-PCR +/- sequence	Specific genes (Achondroplasia)	Frozen (<12 h)
	Northern blot	Expression level, mutation screen	Frozen (<12 h)

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