Test Directory

Non-Prenatal Specimens

Prenatal Specimens

Either specimen type below is acceptable.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.

• Transport at room temperature within 24 hours.
• If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
• Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 

• Improperly labeled specimen (minimum of two patient identifiers)
• Inappropriate specimen type
• Incomplete or incorrect test request form
• Insufficient volume
• Specimen has leaked in transit
• Specimen without a test order

Spondyloepimetaphyseal dysplasia, Missouri type, metaphyseal anadysplasia 1, metaphyseal anadysplasia 2 and metaphyseal dysplasia, Spahr type:

Spondyloepimetaphyseal dysplasia, Missouri type (SEMD, Missouri type; MIM 602111) is an autosomal dominant disorder caused by missense mutations in the prodomain of matrix metalloproteinase 13 (MMP13). SEMD, Missouri type is allelic to metaphyseal anadysplasia 1 (MANDP1; MIM 602111) and they most likely represent a phenotypic spectrum rather than discrete disorders. Both SEMD, Missouri type and MANDP1 are disorders characterized by similar, if not identical, transient metaphyseal abnormalities including flaring, irregularity and a widened growth plate that improve spontaneously. Other findings include pear-shaped vertebrae in childhood, delayed bone age, rhizomelic shortening especially of the lower limbs, genu varum, tibial, femoral, radial and ulnar bowing, small flattened epiphyses and irregular endplates. An autosomal recessive form of MANDP1, caused by loss of function mutations in the MMP13 gene, also exists. A second autosomal recessive form of metaphyseal anadysplasia, designated metaphyseal anadysplasia 2 (MANDP2; MIM 613073), is caused by loss of function mutations in the matrix metalloproteinase 9 gene (MMP9). MANDP1 and MANDP2 are considered to be phenotypically indistinguishable. The dominant forms of SEMD, Missouri type / MANDP are considered to be more severe than the recessive forms.

Autosomal recessive mutations in MMP13 are causative of metaphyseal dysplasia, Spahr type (MIM 250400). This disorder is characterized by a normal birth length, but the development of bowed and shortened legs with a waddling gait in early childhood.