TESTS FORMS SAMPLE SUBMISSION
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Disorder

Testing offered by CDL

Guidelines for Testing

Osteogenesis Imperfecta

 Collagen Screening

 Which OI test should I choose?
COL1A1/2 Genomic Sequencing
COL1A1/2 cDNA Sequencing
CRTAP & LEPRE1 Sequencing

Caffey Disease

 COL1A1 c.3040C>T
Exon 41

Ehlers-Danlos

Syndrome (EDS)

 EDS type IV
(Vascular EDS)
Collagen Screening

 Which EDS test should I choose?
COL3A1 Genomic Sequencing
EDS type VII Collagen Screening
COL1A1 & COL1A2 Exon 6

Loeys-Dietz Syndrome

 Genomic DNA sequencing
of TGFBR1 and TGFBR2

Arterial Tortuosity Syndrome

 Genomic DNA sequencing
of SLC2A10

Relative with a Known Mutation


COL1A1, COL1A2, COL3A1, TGFBR1,
TGFBR2, CRTAP, LEPRE1-
Targeted Analysis
for Known Mutation		 Directed DNA sequencing of
select gene segment