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Test Code
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5302
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Test Name
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Lethal Congenital Contracture Syndrome And Related Disorders NGS Panel
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CPT Codes
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81479
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Expected Turnaround Time
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Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
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Clinical Utility
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Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
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Specimen and Container Info
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Non-Prenatal Specimens Preferred/Alternate | Specimen Type | Containers | Volume | Preferred Specimen Type | Whole Blood | Lavender Top (EDTA) | 3 mL | Alternate Specimen Type | Genomic DNA | 1.5 mL Tube | 3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution. | Alternate Specimen Type | Fibroblasts | T-25 Flasks | 2 confluent T-25 flasks, filled to capacity | Alternate Specimen Type | Saliva (Whole blood is recommended for CNV) | DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children | Follow kit instructions (www.dnagenotek.com) |
Prenatal Specimens Either specimen type below is acceptable. Specimen Type | Containers | Volume | Cultured cells | T-25 Flasks | 2 confluent T-25 flasks derived from amnio or CVS samples. | Genomic DNA | 1.5 mL Tube | 3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution. |
NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico. |
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Transport Instructions
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- Transport at room temperature within 24 hours.
- If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
- Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours.
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Stability Requirements
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Room Temperature
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Refrigerated
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Causes for Rejection
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- Improperly labeled specimen (minimum of two patient identifiers)
- Inappropriate specimen type
- Incomplete or incorrect test request form
- Insufficient volume
- Specimen has leaked in transit
- Specimen without a test order
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Methodology
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Next Generation Sequencing and Copy Number Variation Analysis
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Performing Location
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Genomics - Snowdrift
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Alternate Names
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LCCS
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Description
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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. 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 | ARAR | 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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Testing Schedule
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Monday-Friday
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Genes
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ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ERBB3, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, NEK9, PIP5K1C, RAPSN, VIPAS39, VPS33B, ZBTB42, ZMPSTE24
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Disease Group
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Skeletal Disorders
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