Table 1.

Primers and Probes Used for the CAH-X Assay

Exon/primer	Sequence, dye, and quencher∗
TNXB exon 35
Forward	5′-GAGCCTCAGAGTGTGCAGGT-3′
Reverse	5′-GTTTTCTTGgCTCCCAcctc-3′
Probe	5′-FAM-ctgggatcagccCCTGGAGT-MGB-3′
TNXB exon 40
Forward	5′-TCCTCAACGGCAACCGc-3′
Reverse	5′-GAACACCTGGGAAGCAAGTG-3′
Probe	5′-FAM-CGTGTTTTGcGACATGGAGAC-MGB-3′
HBB
Forward	5′-TATCATGCCTCTTTGCACCA-3′
Reverse	5′-AATCCAGCCTTATCCCAACC-3′
Probe3	5′-VIC-CAGCTACAATCCAGCTACCATTCTGC-MGB-3′

CAH-X, connective tissue dysplasia consistent with hypermobility-type Ehlers-Danlos syndrome due to a contiguous gene deletion involving the adjacent CYP21A2 and TNXB genes.

^∗DNA bases specific to the active gene TNXB are marked in lowercase, and bases shared by both TNXB and pseudogene TNXA are shown in capitals.