Fetal Akinesia, Arthrogryposis, or Contractures


Test Details
TEST CODE NGS348
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 152
CPT CODE 81479
PRICE $2495
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance Fetal akinesia deformation sequence syndrome (FADS) is characterized by a variable combination of fetal akinesia, prenatal growth restriction, developmental defects (including cleft palate, cryptorchidism, cystic hygroma, heart abnormalities, intestinal malrotation and lung hypoplasia), arthrogryposis, and in some cases, limb pterygia. Lethal multiple pterygium (LMP) is a series of disorders of fetal formation with a heterogeneous range of manifestations that generally include cystic hygroma, pulmonary hypoplasia, cleft palate, cryptorchidism, joint contractures, fetal akinesia, heart defects, growth restriction, and intestinal malrotation. Traditionally multiple pterygium syndrome (MPS) has been divided into two forms: prenatally lethal (LMPS) and non-lethal Escobar type (EVMPS) types. MPS is most commonly inherited as an autosomal recessive trait though autosomal dominant and X-linked cases are described. Both MPS and FADS are genetically heterogeneous and although, in some cases, a diagnosis of a specific primary myopathy, metabolic or neurodevelopmental disorder can be made by clinical and pathological investigations, the underlying etiology is unknown in the majority of cases.
Relevant Diseases
  • Fetal Akinesia/Arthrogryposis/Contractures

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
ABCC8
ACTA1
AIMP1
ALG11
ALG12
ALG2
ALG3
ALG6
ALG8
ALG9
AMPD2
ARX
ASAH1
ATP7A
B4GALT1
BAG3
BICD2
BIN1
CAPN3
CDC6
CDT1
CHAT
CHMP1A
CHRNA1
CHRND
CHRNG
CHST14
CHUK
CLIC2
CLP1
CNTN1
COG7
COL6A1
COL6A2
COL6A3
CPT2
DHCR24
DOK7
DPAGT1
DPM1
DPM3
DST
DYNC1H1
ECEL1
EGR2
EMD
ERBB3
ERCC1
ERCC2
ERCC5
ERCC6
ERLIN2
EXOSC3
FAM20C
FBN1
FBN2
FHL1
FKRP
FKTN
FLVCR2
FUCA1
GAD1
GBA
GBE1
GCK
GDAP1
GJB1
GLE1
GLUL
GUSB
HDAC8
HINT1
HRAS
HSPG2
HUWE1
IDS
IGHMBP2
ISPD
KCNJ11
LAMA2
LAMB1
LARGE
LMNA
MED12
MEGF10
MFN2
MOGS
MPDU1
MPI
MPZ
MTM1
MYBPC1
MYH2
MYH3
MYH8
MYOT
OCRL
ORC1
ORC4
ORC6
PEX7
PGM1
PIP5K1C
PLA2G6
PLEC
PLEKHG5
PLOD3
PLP1
PMM2
POLG
POMGNT1
POMT1
POMT2
PTRF
RAPSN
RARS2
RFT1
RIPK4
RMND1
RYR1
SEPN1
SEPSECS
SGCG
SKI
SLC12A6
SLC25A19
SLC2A10
SLC39A13
SMN1
SOX10
SPG20
SRD5A3
SYNE1
TMEM165
TMEM5
TNNI2
TNNT1
TNNT3
TPM2
TPM3
TRPV4
TSEN2
TSEN34
TSEN54
UBA1
VIPAS39
VPS33B
VPS53
VRK1
ZMPSTE24
ZNF335
ZNF592

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