Lethal congenital contracture syndrome and related disorders NGS Panel

Number of Panel Genes:

Lethal congenital contracture syndrome (LCCS) is a group of genetically heterogeneous disorders characterized by multiple congenital joint contractures, intrauterine growth retardation, dysmorphic facial features, pulmonary hypoplasia, muscular atrophy, decreased fetal movement, and polyhydramnios. Akinesia, hypotonia, areflexia, diaphragmatic atrophy and pterygium may also be present.

The lethal congenital contractual syndrome and related disorders NGS Panel consists of twenty-two genes: ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ERBB3, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, NEK9, PIP5K1C, RAPSN, VIPAS39, VPS33B, ZBTB42 and ZMPSTE24.

Copy number variation (CNV) analysis of the LCCS and related disorders genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests, unless otherwise indicated.

Gene	Disorder	MIM	Inheritance
ADCY6	Lethal congenital contracture syndrome 8 (LCCS8)	616287	AR
ADGRG6	Lethal congenital contracture syndrome 9 (LCCS9)	616503	AR
CHRNA1	Multiple pterygium syndrome, lethal type (LMPS) Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B)	253290 601462 608930	AR AD AR / AD
CHRND	Multiple pterygium syndrome, lethal type (LMPS) Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A) Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C)	253290 616321 616322 616323	AR AD AR AR
CHRNG	Multiple pterygium syndrome, lethal type (LMPS) Multiple pterygium syndrome, Escobar variant (EVMPS)	253290 265000	AR AR
CNTNAP1	Lethal congenital contracture syndrome 7 (LCCS7)	616286	AR
DNM2	Lethal congenital contracture syndrome 5 (LCCS5) Charcot-Marie-Tooth disease, dominant intermediate B (CMTDIB) Myopathy, centronuclear 1 (CNM1)	615368 606482 160150	AR AD AD
DOK7	Fetal akinesia deformation sequence (FADS) Myasthenic syndrome, congenital, 10 (CMS10)	208150 254300	AR AR
ERBB3	Lethal congenital contracture syndrome 2 (LCCS2)	607598	AR
GLDN	Lethal congenital contracture syndrome 11 (LCCS11)	617194	AR
GLE1	Lethal congenital contracture syndrome 1 (LCCS1) Arthrogryposis, lethal, with anterior horn cell disease (LAAHD)	253310 611890	AR AR
LGI4	Arthrogryposis multiplex congenita, LGI4 related	-	AR
LMNA	Restrictive dermopathy, lethal Charcot-Marie-Tooth disease, axonal, type 2B1 (CMT2B1) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) Mandibuloacral dysplasia (MADA) Muscular dystrophy, congenital, LMNA related Muscular dystrophy, limb-girdle, type 1B (LGMD1B)	275210 605588 181350 616516 248370 613205 159001	AR AR AD AR AR AD AD
MUSK	Fetal akinesia deformation sequence (FADS) Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9)	208150 616325	AR AR
MYBPC1	Lethal congenital contracture syndrome 4 (LCCS4) Arthrogryposis, distal, type 1B (DA1B)	614915 614335	AR AD
NEK9	Lethal congenital contracture syndrome 10 (LCCS10) Arthrogryposis, Perthes disease, and upward gaze palsy (APUG)	617022 614262	AR AR
PIP5K1C	Lethal congenital contracture syndrome 3 (LCCS3)	611369	AR
RAPSN	Fetal akinesia deformation sequence (FADS) Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11)	208150 616326	AR AR
VIPAS39	Arthrogryposis, renal dysfunction, and cholestasis 2 (ARCS2)	613404	AR
VPS33B	Arthrogryposis, renal dysfunction, and cholestasis 1 (ARCS1)	208085	AR
ZBTB42	Lethal congenital contracture syndrome 6 (LCCS6)	616248	AR
ZMPSTE24	Restrictive dermopathy, lethal Mandibuloacral dysplasia with type B lipodystrophy (MADB)	275210 608612	AR AR

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Tests Available

22 Panel Genes: ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ERBB3, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, NEK9, PIP5K1C, RAPSN, VIPAS39, VPS33B, ZBTB42, ZMPSTE24

$1,300

Test Code: 5300

$990

Test Code: 5301

$1,500

Test Code: 5302

Test Details

Technical Information

Panel Genes:

ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ERBB3, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, NEK9, PIP5K1C, RAPSN, VIPAS39, VPS33B, ZBTB42, ZMPSTE24

Disease Groups:

Skeletal Dysplasias

Billing

CPT Codes:

81406 x 1

81479 x 1

Ordering

SKU:

5300

Turnaround Time:

Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.

Non-Prenatal Specimens:

Whole blood: purple-top (EDTA) tube, minimum of 3 ml
Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Fibroblasts: 2 confluent T-25 flasks
Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted

Prenatal Specimens: