Ehlers-Danlos Information

EDS DIAGNOSIS- CLINICAL

• Diagnostic criteria for EDS subtypes

• Diagnostic checklist for hypermobile EDS

• Beighton Score Assessment

• EDS international classification

• Suggested medical work-up for those traveling to see Ehlers Danlos specialists.

DIAGNOSIS CODES FOR EDS

• Q79.60 Ehlers-Danlos syndrome, unspecified
• Q79.61 Classical Ehler-Danlos syndrome
• Q79.62 Hypermobile Ehler-Danlos syndrome
• Q79.63 Vascular Ehler-Danlos syndrome
• Q79.69 Other Ehler-Danlos syndrome

EDS DIAGNOSIS- INVITAE GENETIC

After our initial visit, if it is clinically indicated, Dr. Shaya can order the genetic test to rule out more serious forms of EDS and other connective tissue disorders. The requisition is placed  by us and the kit is drop shipped to your home from Invitae. You collect the saliva just as you would a 23 and me or ancestry test. You will pay Invitae $250 and ship the specimen back to them. Turn around time is around 2 weeks. 

• Invitae Connective Tissue Disorders Panel-Test code: 434340- $250

  *** You get more genes with this panel for the same price as the EDS  panel***

  • 92 Genes including LZTS1 which in early studies appears to correlated with autosomal dominant hEDS

  • ABCC6, ABL1, ACTA2, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ARIH1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, C1S, CBS, CHST14, CHST3, COG7, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, CRTAP, DCHS1, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FLNB, FOXE3, GGCX, GORAB, HCN4, LEMD3, LOX, LOXL3, LTBP2, LTBP3, LTBP4, LZTS1, MAT2A, MED12, MFAP5, MYH11, MYLK, NOG, NOTCH1, P3H1, PKD2, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC26A2, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SPARC, TALDO1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, UPF3B, ZNF469

• Invitae Ehlers-Danlos Syndrome Panel- Test Code: 02313-$250 

  • 17 Genes

  • ADAMTS2, ATP7A, B3GALT6, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FKBP14, FLNA, P3H1, PLOD1, SLC39A13

ARTICLES

• Ehlers-Danlos Syndrome and its Fellow Traveler, Mast Cell Activation Syndrome 2018 lecture slides by Anne Maitland  M.D

• Mast Cell Disorders in Ehlers–Danlos Syndrome

• Hypermobile Ehlers–Danlos Syndrome (a.k.a. Ehlers–Danlos Syndrome Type III and Ehlers–Danlos Syndrome Hypermobility Type): Clinical Description and Natural History

• Cardiovascular Autonomic Dysfunction in Ehlers–Danlos Syndrome—Hypermobile Type

• Joint Hypermobility and Postural Orthostatic Tachycardia

• Joint hypermobility and chronic pain article

WEBINARS

• "Coordination of Care in Adults with EDS" - Dr. Shweta Dhar- 2014

• Dr. Delia Chiaramonte presents “An Integrative Approach to Pain Management in EDS”- 2016

• Clair Francomano MD presents “EDS Overview of Diagnosis and Management"-2019 

• Your guide to useful accommodations for dysautonomia and complex care cases

• Great Plains Laboratory: Clinical Considerations for Dysautonomia