Ehlers Danlos, Ehlers Danlos-like Syndromes, and Aneurysm Syndromes


Test Details
TEST CODE NGS377
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 46
CPT CODE 81408 x2, 81479
PRICE $1995
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance

Connective tissues provide a framework and structural support for the body, protect organs, connect body tissues, and store energy. Connective tissue disorders are a heterogeneous group of more than 200 conditions that often involve the joints, muscles, and skin. Heritable connective tissue disorders include both soft tissue disorders, characterized by excessive skin laxity, joint hypermobility, and easy bruising, aneurysm syndromes, as well as skeletal dysplasias that affect bone development. Most common connective tissue disorders are: Ehlers Danlos Syndrome, Marfan Disease, Loeys-Dietz Syndrome, Stickler Syndrome, and Cutis Laxa.

Diagnosis of heritable connective tissue disorders may be challenging due to extensive clinical variability, phenotypic overlap, or atypical presentation. However, making a specific diagnosis is important given that some of these disorders feature life-threatening complications, such as aortic root rupture, that require careful medical surveillance and monitoring. In addition, treatment options are available for some types of connective tissue disorders.

Ehlers-Danlos syndrome is a group of disorders that affect connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.

Relevant Diseases
  • Ehlers Danlos, Ehlers Danlos-like Syndromes, and Aneurysm syndromes

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: (1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80┬░Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. (6) Buccal cells.
Shipping Condition: MNG SmartKits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG SmartKit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped priority overnight at ambient temperature. (3) T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge (See TC05). (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. (5) Buccal cells should be shipped in a secure container at room temperature. (6) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).

Genes Assessed
ABCC6
ACTA2
ADAMTS2
ALDH18A1
ATP6V0A2
B3GALT6
B4GALT7
CHST14
COG7
COL1A1
COL1A2
COL3A1
COL4A1
COL5A1
COL5A2
DOCK8
EFEMP2
ELN
ENG
FBLN5
FBN1
FKBP14
GAA
JAG1
LTBP4
MED12
MYH11
MYLK
NF1
NOTCH1
PKD1
PKD2
PLOD1
PLOD3
PRKG1
PYCR1
RNF213
SAMHD1
SLC2A10
SLC39A13
SMAD3
SRCAP
TGFB2
TGFBR1
TGFBR2
TNXB

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