Diastrophic dysplasia | Connective Tissue Gene Tests

Diastrophic dysplasia (DTD; MIM 222600) as well as achondrogenesis type IB (ACG1B; MIM 600972), atelosteogenesis type II (AO2; MIM 256050) and autosomal recessive form of multiple epiphyseal dysplasia (EDM4; MIM 226900) are caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST/SLC26A2)read more

$600

Test Code: 1116

$900

Test Code: 1117

$1,100

Test Code: 1527

Skeletal dysplasia core NGS panel (10 genes)	NGS $1,100 Del Dup $2,500 Comp $1,300
Desbuquois dysplasia and related disorders NGS panel (11 genes)	NGS $1,100 Del Dup $990 Comp $1,300
Skeletal dysplasia core & extended NGS panel (29 genes)	NGS $1,300 Del Dup $990 Comp $1,500

Genes:

SLC26A2

Disease Groups:

Skeletal Dysplasias

MIM:

222600

Price:

$600

CPT Codes:

81479 x 1

SKU:

1116

Turnaround Time:

Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.

Non-Prenatal Specimens:

Whole blood: purple-top (EDTA) tube, minimum of 3 ml
Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Fibroblasts: 4 confluent T-25 flasks
Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted

Prenatal Specimens: